nsv4634575
- 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:139
- Description:esv3833342 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4110680 from gnomAD Structural Variants. 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: 79 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634575 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 182,289,447 | 182,289,585 |
| nsv4634575 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 182,007,235 | 182,007,373 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16179381 | deletion | Curated | Curated |
| nssv16196688 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16179381 | Remapped | Perfect | NC_000003.12:g.182 289447_182289585de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 182,289,447 | 182,289,585 |
| nssv16196688 | Remapped | Perfect | NC_000003.12:g.182 289447_182289585de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 182,289,447 | 182,289,585 |
| nssv16179381 | Submitted genomic | NC_000003.11:g.182 007235_182007373de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 182,007,235 | 182,007,373 | ||
| nssv16196688 | Submitted genomic | NC_000003.11:g.182 007235_182007373de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 182,007,235 | 182,007,373 |
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) |
|---|---|---|---|
| nssv16179381 | 0.024 | 519 | 21654 |
| nssv16196688 | 0.018 | 88 | 5008 |