nsv4656101
- 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:20,254
- Description:esv3862682 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: 374 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4656101 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 4,309,347 | 4,329,600 |
| nsv4656101 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 4,330,577 | 4,350,830 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16193901 | copy number loss | Curated | Curated |
| nssv16206044 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16193901 | Remapped | Perfect | NC_000011.10:g.430 9347_4329600del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,309,347 | 4,329,600 |
| nssv16206044 | Remapped | Perfect | NC_000011.10:g.430 9347_4329600dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,309,347 | 4,329,600 |
| nssv16193901 | Submitted genomic | NC_000011.9:g.4330 577_4350830del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 4,330,577 | 4,350,830 | ||
| nssv16206044 | Submitted genomic | NC_000011.9:g.4330 577_4350830dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 4,330,577 | 4,350,830 |
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) |
|---|---|---|---|
| nssv16193901 | 0.048 | 242 | 5008 |
| nssv16206044 | 0.041 | 205 | 5008 |