nsv457367
- Organism: Homo sapiens
- Study:nstd27 (Itsara et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:250,726
- Publication(s):Itsara et al. 2009
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: 1337 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1337 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv457367 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 6,455,963 | 6,706,688 |
| nsv457367 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 6,505,964 | 6,756,689 |
| nsv457367 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 6,445,965 | 6,696,690 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv534567 | copy number loss | HGDP00672 | SNP array | SNP genotyping analysis | 1 | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv534567 | Remapped | Perfect | NC_000016.10:g.(?_ 6455963)_(6706688_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 6,455,963 | 6,706,688 |
| nssv534567 | Remapped | Perfect | NC_000016.9:g.(?_6 505964)_(6756689_? )del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 6,505,964 | 6,756,689 |
| nssv534567 | Submitted genomic | NC_000016.8:g.(?_6 445965)_(6696690_? )del | NCBI35 (hg17) | NC_000016.8 | Chr16 | 6,445,965 | 6,696,690 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv534567 | 2 | HGDP00672 | Oligo aCGH | Probe signal intensity | Pass |