nsv517895
- 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:231,877
- 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: 981 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 981 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv517895 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 72,761,686 | 72,993,562 |
| nsv517895 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 1 | 116,753 |
| nsv517895 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 70,757,825 | 70,989,701 |
| nsv517895 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 68,269,420 | 68,501,296 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv695304 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv695304 | Remapped | Pass | NW_019805501.1:g.( ?_1)_(116753_?)del | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 1 | 116,753 |
| nssv695304 | Remapped | Perfect | NC_000017.11:g.(?_ 72761686)_(7299356 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,761,686 | 72,993,562 |
| nssv695304 | Remapped | Perfect | NC_000017.10:g.(?_ 70757825)_(7098970 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,757,825 | 70,989,701 |
| nssv695304 | Submitted genomic | NC_000017.9:g.(?_6 8269420)_(68501296 _?)del | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,269,420 | 68,501,296 |