nsv913448
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,583
- Publication(s):Xu et al. 2011
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: 512 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv913448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 19,304,328 | 19,319,337 | 19,350,316 | 19,357,910 |
| nsv913448 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 20,676,645 | 20,691,654 | 20,722,633 | 20,730,227 |
| nsv913448 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 19,598,516 | 19,613,525 | 19,644,504 | 19,652,098 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1588049 | copy number loss | IS38148 | SNP array | SNP genotyping analysis | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1588049 | Remapped | Perfect | NC_000021.9:g.(193 04328_19319337)_(1 9350316_19357910)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 19,304,328 | 19,319,337 | 19,350,316 | 19,357,910 |
| nssv1588049 | Remapped | Perfect | NC_000021.8:g.(206 76645_20691654)_(2 0722633_20730227)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 20,676,645 | 20,691,654 | 20,722,633 | 20,730,227 |
| nssv1588049 | Submitted genomic | NC_000021.7:g.(195 98516_19613525)_(1 9644504_19652098)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 19,598,516 | 19,613,525 | 19,644,504 | 19,652,098 |