nsv6302020
- 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:97,001
- Description:nsv5482785 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: 1059 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1059 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6302020 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,083,000 | 4,180,000 |
nsv6302020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 3,940,522 | 4,037,522 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17673933 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17673933 | Remapped | Perfect | NC_000008.11:g.408 3000_4180000del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,083,000 | 4,180,000 |
nssv17673933 | Submitted genomic | NC_000008.10:g.394 0522_4037522del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 3,940,522 | 4,037,522 |
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) |
---|---|---|---|
nssv17673933 | 0.014 | 88 | 6404 |