nsv2768226
- 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:1,656,389
- 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: 3499 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3499 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2768226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 45,333,535 | 46,989,923 |
| nsv2768226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 45,373,134 | 47,029,521 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13638287 | copy number loss | 9 | SNP array | SNP genotyping analysis | 1 | nssv13638282, nssv13638283, nssv13638286 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13638287 | Remapped | Perfect | NC_000007.14:g.(?_ 45333535)_(4698992 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 45,333,535 | 46,989,923 |
| nssv13638287 | Submitted genomic | NC_000007.13:g.(?_ 45373134)_(4702952 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 45,373,134 | 47,029,521 |