nsv5386316
- 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:155,992
- Description:nsv4828583 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: 3182 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3182 SVs from 112 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5386316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,793,135 | 29,949,126 |
nsv5386316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,760,912 | 29,916,903 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16871614 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16871614 | Remapped | Perfect | NC_000006.12:g.297 93135_29949126dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,793,135 | 29,949,126 |
nssv16871614 | Submitted genomic | NC_000006.11:g.297 60912_29916903dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,760,912 | 29,916,903 |
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) |
---|---|---|---|
nssv16871614 | 0.075 | 1261 | 16834 |