nsv3318898
- 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:20,638
- 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: 210 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3318898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 27,667,148 | 27,687,785 |
nsv3318898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 27,634,927 | 27,655,564 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14468353 | copy number gain | M2143 | SNP array | SNP genotyping analysis | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14468353 | Remapped | Perfect | NC_000006.12:g.(?_ 27667148)_(2768778 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 27,667,148 | 27,687,785 |
nssv14468353 | Submitted genomic | NC_000006.11:g.(?_ 27634927)_(2765556 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 27,634,927 | 27,655,564 |