nsv3318273
- 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:237,406
- 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: 1308 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1308 SVs from 90 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3318273 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 8,916,763 | 9,154,168 |
nsv3318273 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 1 | 134,364 |
nsv3318273 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 8,956,393 | 9,193,798 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14471833 | copy number loss | M2496 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14471833 | Remapped | Pass | NW_019805493.1:g.( ?_1)_(134364_?)del | GRCh38.p12 | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 1 | 134,364 |
nssv14471833 | Remapped | Perfect | NC_000007.14:g.(?_ 8916763)_(9154168_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,916,763 | 9,154,168 |
nssv14471833 | Submitted genomic | NC_000007.13:g.(?_ 8956393)_(9193798_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 8,956,393 | 9,193,798 |