nsv4642201
- 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:119
- Description:esv3851966 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv5478377 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: 236 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4642201 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 153,486,690 | 153,486,808 |
| nsv4642201 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 153,183,775 | 153,183,893 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16185518 | deletion | Curated | Curated |
| nssv17654059 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16185518 | Remapped | Perfect | NC_000007.14:g.153 486690_153486808de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 153,486,690 | 153,486,808 |
| nssv17654059 | Remapped | Perfect | NC_000007.14:g.153 486690_153486808de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 153,486,690 | 153,486,808 |
| nssv16185518 | Submitted genomic | NC_000007.13:g.153 183775_153183893de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 153,183,775 | 153,183,893 | ||
| nssv17654059 | Submitted genomic | NC_000007.13:g.153 183775_153183893de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 153,183,775 | 153,183,893 |
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) |
|---|---|---|---|
| nssv16185518 | 0.015 | 75 | 5008 |
| nssv17654059 | 0.056 | 356 | 6404 |