nsv6121402
- 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:305
- Description:nsv5507998 from Byrska-Bishop et. al 2021. 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: 124 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6121402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 29,148,473 | 29,148,777 |
nsv6121402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 29,722,610 | 29,722,914 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17962731 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17962731 | Remapped | Perfect | NC_000013.11:g.291 48473_29148777del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 29,148,473 | 29,148,777 |
nssv17962731 | Submitted genomic | NC_000013.10:g.297 22610_29722914del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 29,722,610 | 29,722,914 |
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) |
---|---|---|---|
nssv17962731 | 0.338 | 2162 | 6404 |