nsv6127496
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,795,015
- Description:nsv5541060 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: 11382 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 11456 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6127496 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,038,279 | 56,833,293 |
nsv6127496 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 13,193,955 | 58,979,440 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17961315 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17961315 | Remapped | Good | NC_000024.10:g.110 38279_56833293ins? | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,038,279 | 56,833,293 |
nssv17961315 | Submitted genomic | NC_000024.9:g.1319 3955_58979440ins? | GRCh37 (hg19) | NC_000024.9 | ChrY | 13,193,955 | 58,979,440 |
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) |
---|---|---|---|
nssv17961315 | 0.484 | 1549 | 3198 |