nsv4643769
- 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:4,429
- Description:esv3866084 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 113 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4643769 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000009.12 | Chr9 | 33,828 | 38,256 |
| nsv4643769 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 147,081 | 151,800 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16186404 | copy number loss | Curated | Curated |
| nssv16206381 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16186404 | Remapped | Pass | NC_000009.12:g.338 28_38256del | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | 33,828 | 38,256 |
| nssv16206381 | Remapped | Pass | NC_000009.12:g.338 28_38256dup | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | 33,828 | 38,256 |
| nssv16186404 | Submitted genomic | NC_000012.11:g.147 081_151800del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 147,081 | 151,800 | ||
| nssv16206381 | Submitted genomic | NC_000012.11:g.147 081_151800dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 147,081 | 151,800 |
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) |
|---|---|---|---|
| nssv16186404 | 0.019 | 94 | 5008 |
| nssv16206381 | 0.148 | 743 | 5008 |