nsv2768224
- Organism: Homo sapiens
- Study:nstd125 (Wills et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,964,026
- Publication(s):Wills et al. 2016
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: 15411 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 15405 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2768224 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 65,310,014 | 70,274,039 |
| nsv2768224 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 66,019,907 | 70,983,742 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number |
|---|---|---|---|---|---|
| nssv13638299 | copy number loss | 17 | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13638299 | Remapped | Good | NC_000006.12:g.(?_ 65310014)_(7027403 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 65,310,014 | 70,274,039 |
| nssv13638299 | Submitted genomic | NC_000006.11:g.(?_ 66019907)_(7098374 2_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 66,019,907 | 70,983,742 |