nsv4640696
- 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:22,262
- Description:esv3863067 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: 845 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 845 SVs from 91 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4640696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 18,920,189 | 18,942,450 |
| nsv4640696 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 18,941,736 | 18,963,997 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16193061 | copy number loss | Curated | Curated |
| nssv16205859 | copy number gain | Curated | Curated |
| nssv16206038 | copy number gain | Curated | Curated |
| nssv16206301 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16193061 | Remapped | Perfect | NC_000011.10:g.189 20189_18942450del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,920,189 | 18,942,450 |
| nssv16205859 | Remapped | Perfect | NC_000011.10:g.189 20189_18942450dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,920,189 | 18,942,450 |
| nssv16206038 | Remapped | Perfect | NC_000011.10:g.189 20189_18942450dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,920,189 | 18,942,450 |
| nssv16206301 | Remapped | Perfect | NC_000011.10:g.189 20189_18942450dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,920,189 | 18,942,450 |
| nssv16193061 | Submitted genomic | NC_000011.9:g.1894 1736_18963997del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,736 | 18,963,997 | ||
| nssv16205859 | Submitted genomic | NC_000011.9:g.1894 1736_18963997dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,736 | 18,963,997 | ||
| nssv16206038 | Submitted genomic | NC_000011.9:g.1894 1736_18963997dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,736 | 18,963,997 | ||
| nssv16206301 | Submitted genomic | NC_000011.9:g.1894 1736_18963997dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,736 | 18,963,997 |
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) |
|---|---|---|---|
| nssv16193061 | 0.044 | 222 | 5008 |
| nssv16205859 | 0.217 | 1087 | 5008 |
| nssv16206038 | 0.024 | 120 | 5008 |
| nssv16206301 | 0.011 | 55 | 5008 |