nsv3317445
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:279,787
- Publication(s):Frenkel et al. 2019
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: 61 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2363 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317445 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
| nsv3317445 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 61,738,085 | 61,886,130 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468021 | copy number loss | M2125 | SNP array | SNP genotyping analysis | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468021 | Remapped | Pass | NT_187383.1:g.(?_3 31112)_(610898_?)d el | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
| nssv14468021 | Submitted genomic | NC_000007.13:g.(?_ 61738085)_(6188613 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,738,085 | 61,886,130 |