nsv4634874
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67
- Description:esv3829520 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4918121 from Abel et. al 2020. 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: 174 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634874 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,451,300 | 20,451,366 |
| nsv4634874 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 20,492,792 | 20,492,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16201421 | deletion | Curated | Curated |
| nssv16888322 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16201421 | Remapped | Perfect | NC_000003.12:g.204 51300_20451366del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,451,300 | 20,451,366 |
| nssv16888322 | Remapped | Perfect | NC_000003.12:g.204 51300_20451366del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,451,300 | 20,451,366 |
| nssv16201421 | Submitted genomic | NC_000003.11:g.204 92792_20492858del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 20,492,792 | 20,492,858 | ||
| nssv16888322 | Submitted genomic | NC_000003.11:g.204 92792_20492858del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 20,492,792 | 20,492,858 |
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) |
|---|---|---|---|
| nssv16201421 | 0.129 | 647 | 5008 |
| nssv16888322 | 0.11 | 3201 | 29246 |