nsv511275
- Organism: Homo sapiens
- Study:nstd50 (Arlt 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:13,552
- Publication(s):Arlt 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: 413 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 244 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv511275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 14,138,139 | 14,143,392 | 14,145,095 | 14,151,690 |
| nsv511275 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 14,138,248 | 14,143,501 | 14,145,204 | 14,151,799 |
| nsv511275 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 14,191,248 | 14,196,501 | 14,198,204 | 14,204,799 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv624955 | copy number gain | 1 | SNP array | SNP genotyping analysis | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv624955 | Remapped | Perfect | NC_000005.10:g.(14 138139_14143392)_( 14145095_14151690) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 14,138,139 | 14,143,392 | 14,145,095 | 14,151,690 |
| nssv624955 | Remapped | Perfect | NC_000005.9:g.(141 38248_14143501)_(1 4145204_14151799)d up | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 14,138,248 | 14,143,501 | 14,145,204 | 14,151,799 |
| nssv624955 | Submitted genomic | NC_000005.8:g.(141 91248_14196501)_(1 4198204_14204799)d up | NCBI36 (hg18) | NC_000005.8 | Chr5 | 14,191,248 | 14,196,501 | 14,198,204 | 14,204,799 |