nsv984717
- Organism: Homo sapiens
- Study:nstd92 (Forsberg et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,629,159
- Publication(s):Forsberg 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: 44095 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 44097 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984717 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 14,159 | 10,643,317 |
| nsv984717 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 14,159 | 10,643,429 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv3217366 | copy number gain | PIVUS262 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217366 | Remapped | Good | NC_000005.10:g.(?_ 14159)_(10643317_? )dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 14,159 | 10,643,317 |
| nssv3217366 | Submitted genomic | NC_000005.9:g.(?_1 4159)_(10643429_?) dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 14,159 | 10,643,429 |