nsv914476
- 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:216,865
- 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: 1788 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1798 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 751 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv914476 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,946,569 | 21,946,569 | 22,163,433 | 22,163,433 |
| nsv914476 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 22,300,941 | 22,307,381 | 22,517,673 | 22,517,826 |
| nsv914476 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 20,630,941 | 20,637,381 | 20,847,673 | 20,847,826 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1572879 | copy number gain | IS33188 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1572879 | Remapped | Good | NC_000022.11:g.(21 946569_21946569)_( 22163433_22163433) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,946,569 | 21,946,569 | 22,163,433 | 22,163,433 |
| nssv1572879 | Remapped | Perfect | NC_000022.10:g.(22 300941_22307381)_( 22517673_22517826) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,300,941 | 22,307,381 | 22,517,673 | 22,517,826 |
| nssv1572879 | Submitted genomic | NC_000022.9:g.(206 30941_20637381)_(2 0847673_20847826)d up | NCBI36 (hg18) | NC_000022.9 | Chr22 | 20,630,941 | 20,637,381 | 20,847,673 | 20,847,826 |