nsv522917
- Organism: Homo sapiens
- Study:nstd21 (Shaikh 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:247,675
- Publication(s):Shaikh 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: 992 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 992 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv522917 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 146,749,675 | 146,997,349 |
| nsv522917 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 146,446,767 | 146,694,441 |
| nsv522917 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 145,884,415 | 146,132,089 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv698578 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv698578 | Remapped | Perfect | NC_000007.14:g.(?_ 146749675)_(146997 349_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,749,675 | 146,997,349 |
| nssv698578 | Remapped | Perfect | NC_000007.13:g.(?_ 146446767)_(146694 441_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,446,767 | 146,694,441 |
| nssv698578 | Submitted genomic | NC_000007.11:g.(?_ 145884415)_(146132 089_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 145,884,415 | 146,132,089 |