nsv6297537
- 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:165,206
- Description:nsv5437403 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: 690 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 690 SVs from 67 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6297537 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 7,826,973 | 7,992,178 |
nsv6297537 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 7,868,660 | 8,033,865 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17663256 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17663256 | Remapped | Perfect | NC_000003.12:g.782 6973_7992178del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 7,826,973 | 7,992,178 |
nssv17663256 | Submitted genomic | NC_000003.11:g.786 8660_8033865del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 7,868,660 | 8,033,865 |
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) |
---|---|---|---|
nssv17663256 | 0.138 | 716 | 5182 |