nsv526127
- 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:221,301
- 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: 942 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 942 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv526127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 226,286,155 | 226,507,455 |
| nsv526127 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 227,150,871 | 227,372,171 |
| nsv526127 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 226,976,376 | 227,197,676 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv702379 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv702379 | Remapped | Perfect | NC_000002.12:g.(?_ 226286155)_(226507 455_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 226,286,155 | 226,507,455 |
| nssv702379 | Remapped | Perfect | NC_000002.11:g.(?_ 227150871)_(227372 171_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 227,150,871 | 227,372,171 |
| nssv702379 | Submitted genomic | NC_000002.9:g.(?_2 26976376)_(2271976 76_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 226,976,376 | 227,197,676 |