nsv3318163
- 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:91,427
- 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: 420 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 61 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3318163 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 119,012,086 | 119,103,512 |
nsv3318163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 118,730,933 | 118,822,359 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14469929 | copy number gain | M2290 | SNP array | SNP genotyping analysis | 16 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14469929 | Remapped | Perfect | NC_000003.12:g.(?_ 119012086)_(119103 512_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 119,012,086 | 119,103,512 |
nssv14469929 | Submitted genomic | NC_000003.11:g.(?_ 118730933)_(118822 359_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 118,730,933 | 118,822,359 |