nsv4843772
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:441,486
- Publication(s):Abel et al. 2020
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: 3283 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 3046 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4843772 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 708,643 (-2) | 1,150,128 (-1, +1) |
| nsv4843772 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 (-0) | 218,429 (-1, +1) |
| nsv4843772 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 708,643 (-2) | 1,144,036 (-1, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16383484 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16383484 | Remapped | Pass | NT_187681.1:g.(1_? )_(218428_218430)d up | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 (-0) | 218,429 (-1, +1) |
| nssv16383484 | Remapped | Good | NC_000011.10:g.(70 8641_?)_(1150127_1 150129)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 708,643 (-2) | 1,150,128 (-1, +1) |
| nssv16383484 | Submitted genomic | NC_000011.9:g.(708 641_?)_(1144035_11 44037)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 708,643 (-2) | 1,144,036 (-1, +1) |
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) |
|---|---|---|---|
| nssv16383484 | <0.001 | 1 | 16834 |