nsv520680
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:273,318
- 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: 921 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 921 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv520680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 134,001,210 | 134,274,527 |
| nsv520680 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 134,922,365 | 135,195,682 |
| nsv520680 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 135,279,970 | 135,553,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv673952 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv692757 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv673952 | Remapped | Perfect | NC_000004.12:g.(?_ 134001210)_(134255 550_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 134,001,210 | 134,255,550 |
| nssv692757 | Remapped | Perfect | NC_000004.12:g.(?_ 134001210)_(134274 527_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 134,001,210 | 134,274,527 |
| nssv673952 | Remapped | Perfect | NC_000004.11:g.(?_ 134922365)_(135176 705_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,922,365 | 135,176,705 |
| nssv692757 | Remapped | Perfect | NC_000004.11:g.(?_ 134922365)_(135195 682_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 134,922,365 | 135,195,682 |
| nssv673952 | Submitted genomic | NC_000004.9:g.(?_1 35279970)_(1355343 10_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 135,279,970 | 135,534,310 | ||
| nssv692757 | Submitted genomic | NC_000004.9:g.(?_1 35279970)_(1355532 87_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 135,279,970 | 135,553,287 |