nsv6122957
- 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:263
- Description:nsv5479162 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: 347 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 347 SVs from 42 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6122957 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,235,702 | 1,235,964 |
nsv6122957 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,185,702 | 1,185,964 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17652646 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17652646 | Remapped | Perfect | NC_000008.11:g.123 5702_1235964del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,235,702 | 1,235,964 |
nssv17652646 | Submitted genomic | NC_000008.10:g.118 5702_1185964del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,185,702 | 1,185,964 |
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) |
---|---|---|---|
nssv17652646 | 0.639 | 4095 | 6404 |