nsv4635069
- 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:59
- Description:esv3855287 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv5478273 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: 231 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4635069 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 114,606,693 | 114,606,751 |
| nsv4635069 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 115,618,922 | 115,618,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16196163 | deletion | Curated | Curated |
| nssv17652164 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16196163 | Remapped | Perfect | NC_000008.11:g.114 606693_114606751de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,606,693 | 114,606,751 |
| nssv17652164 | Remapped | Perfect | NC_000008.11:g.114 606693_114606751de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,606,693 | 114,606,751 |
| nssv16196163 | Submitted genomic | NC_000008.10:g.115 618922_115618980de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 115,618,922 | 115,618,980 | ||
| nssv17652164 | Submitted genomic | NC_000008.10:g.115 618922_115618980de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 115,618,922 | 115,618,980 |
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) |
|---|---|---|---|
| nssv16196163 | 0.086 | 429 | 5008 |
| nssv17652164 | 0.093 | 545 | 5834 |