nsv465679
- 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:Not tested
- Clinical Assertions: No
- Region Size:305,870
- 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: 940 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 940 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv465679 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 50,971,367 | 51,277,236 |
| nsv465679 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 51,883,927 | 52,189,796 |
| nsv465679 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 52,046,480 | 52,352,349 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv541434 | copy number gain | 1780862345_A | SNP array | SNP genotyping analysis | 3 | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv541434 | Remapped | Perfect | NC_000008.11:g.(?_ 50971367)_(5127723 6_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 50,971,367 | 51,277,236 |
| nssv541434 | Remapped | Perfect | NC_000008.10:g.(?_ 51883927)_(5218979 6_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 51,883,927 | 52,189,796 |
| nssv541434 | Submitted genomic | NC_000008.9:g.(?_5 2046480)_(52352349 _?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 52,046,480 | 52,352,349 |