nsv5392133
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,000
- Description:nsv4861383 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 148 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 55,064,758 | 55,065,757 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 1,047,240 | 1,048,239 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 776,919 | 777,918 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 1,046,830 | 1,047,829 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 1,072,281 | 1,073,280 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 967,540 | 968,539 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 983,123 | 984,122 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 1,044,744 | 1,045,743 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 709,960 | 710,959 |
| nsv5392133 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 968,156 | 969,155 |
| nsv5392133 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,576,126 | 55,577,125 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16868292 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16868292 | Remapped | Perfect | NT_187693.1:g.1047 240_1048239del | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 1,047,240 | 1,048,239 |
| nssv16868292 | Remapped | Perfect | NW_003571061.2:g.7 76919_777918del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 776,919 | 777,918 |
| nssv16868292 | Remapped | Perfect | NW_003571060.1:g.9 67540_968539del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 967,540 | 968,539 |
| nssv16868292 | Remapped | Perfect | NW_003571059.2:g.9 83123_984122del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 983,123 | 984,122 |
| nssv16868292 | Remapped | Perfect | NW_003571058.2:g.1 046830_1047829del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 1,046,830 | 1,047,829 |
| nssv16868292 | Remapped | Perfect | NW_003571057.2:g.1 072281_1073280del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 1,072,281 | 1,073,280 |
| nssv16868292 | Remapped | Perfect | NW_003571056.2:g.1 044744_1045743del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 1,044,744 | 1,045,743 |
| nssv16868292 | Remapped | Perfect | NW_003571055.2:g.7 09960_710959del | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 709,960 | 710,959 |
| nssv16868292 | Remapped | Perfect | NW_003571054.1:g.9 68156_969155del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 968,156 | 969,155 |
| nssv16868292 | Remapped | Perfect | NC_000019.10:g.550 64758_55065757del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,064,758 | 55,065,757 |
| nssv16868292 | Submitted genomic | NC_000019.9:g.5557 6126_55577125del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,576,126 | 55,577,125 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16868292 | 0.013 | 224 | 16834 |