nsv888116
- 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:495,174
- 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: 958 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2616 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 837 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv888116 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | - | 61,601,100 | 62,096,273 | - |
| nsv888116 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | - | 331,112 | 605,380 | - |
| nsv888116 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,221,860 | 61,221,860 | 61,852,895 | 61,852,895 |
| nsv888116 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,225,802 | 61,239,879 | 61,486,266 | 61,490,330 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1551597 | copy number loss | MS18947 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1551597 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(605380_?)d elNC_000007.14:g.( ?_61601100)_(62096 273_?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | - | 61,601,100 | 62,096,273 | - |
| nssv1551597 | Remapped | Good | NT_187383.1:g.(?_3 31112)_(605380_?)d elNC_000007.14:g.( ?_61601100)_(62096 273_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | - | 331,112 | 605,380 | - |
| nssv1551597 | Remapped | Pass | NC_000007.13:g.(61 221860_61221860)_( 61852895_61852895) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,221,860 | 61,221,860 | 61,852,895 | 61,852,895 |
| nssv1551597 | Submitted genomic | NC_000007.12:g.(61 225802_61239879)_( 61486266_61490330) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,225,802 | 61,239,879 | 61,486,266 | 61,490,330 |