nsv4634518
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68
- Description:esv3833629 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4102083 from gnomAD Structural Variants and nsv4807176 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 151 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634518 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 192,955,531 | 192,955,598 |
| nsv4634518 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 192,673,320 | 192,673,387 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16176247 | deletion | Curated | Curated |
| nssv16187900 | deletion | Curated | Curated |
| nssv16868716 | deletion | Curated | Curated |
| nssv16877172 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16176247 | Remapped | Perfect | NC_000003.12:g.192 955531_192955598de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,955,531 | 192,955,598 |
| nssv16187900 | Remapped | Perfect | NC_000003.12:g.192 955531_192955598de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,955,531 | 192,955,598 |
| nssv16868716 | Remapped | Perfect | NC_000003.12:g.192 955531_192955598de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,955,531 | 192,955,598 |
| nssv16877172 | Remapped | Perfect | NC_000003.12:g.192 955531_192955598de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,955,531 | 192,955,598 |
| nssv16176247 | Submitted genomic | NC_000003.11:g.192 673320_192673387de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,673,320 | 192,673,387 | ||
| nssv16187900 | Submitted genomic | NC_000003.11:g.192 673320_192673387de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,673,320 | 192,673,387 | ||
| nssv16868716 | Submitted genomic | NC_000003.11:g.192 673320_192673387de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,673,320 | 192,673,387 | ||
| nssv16877172 | Submitted genomic | NC_000003.11:g.192 673320_192673387de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,673,320 | 192,673,387 |
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) |
|---|---|---|---|
| nssv16176247 | 0.447 | 9699 | 21676 |
| nssv16187900 | 0.46 | 2306 | 5008 |
| nssv16868716 | 0.448 | 13095 | 29246 |
| nssv16877172 | 0.443 | 7458 | 16834 |