nsv525382
- 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:257,594
- 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: 850 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 849 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv525382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,500,584 | 52,758,177 |
| nsv525382 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 66,408 | 246,895 |
| nsv525382 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 50,577,944 | 50,835,537 |
| nsv525382 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 47,932,943 | 48,190,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv701504 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv701504 | Remapped | Pass | NW_017363818.1:g.( ?_66408)_(246895_? )del | GRCh38.p12 | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 66,408 | 246,895 |
| nssv701504 | Remapped | Perfect | NC_000017.11:g.(?_ 52500584)_(5275817 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,500,584 | 52,758,177 |
| nssv701504 | Remapped | Perfect | NC_000017.10:g.(?_ 50577944)_(5083553 7_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 50,577,944 | 50,835,537 |
| nssv701504 | Submitted genomic | NC_000017.9:g.(?_4 7932943)_(48190536 _?)del | NCBI35 (hg17) | NC_000017.9 | Chr17 | 47,932,943 | 48,190,536 |