nsv1030905
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:798,202
- Publication(s):Coe et al. 2014
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: 2826 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2622 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 726 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1030905 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
| nsv1030905 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
| nsv1030905 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,288,808 | 61,888,128 |
| nsv1030905 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,292,750 | 61,525,563 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3661568 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3661568 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( ?_61578038)_(62376 239_?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
| nssv3661568 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d elNC_000007.14:g.( ?_61578038)_(62376 239_?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
| nssv3661568 | Remapped | Pass | NC_000007.13:g.(?_ 61288808)_(6188812 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,288,808 | 61,888,128 |
| nssv3661568 | Submitted genomic | NC_000007.12:g.(?_ 61292750)_(6152556 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,292,750 | 61,525,563 |