nsv4365241
- Organism: Homo sapiens
- Study:nstd173 (Zarrei 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:21,801
- Publication(s):Zarrei 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: 141 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4365241 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 54,146,304 | 54,168,104 |
nsv4365241 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 54,613,022 | 54,634,822 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15657362 | copy number loss | 3-0489-000 | SNP array | Genotyping | 16 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15657362 | Remapped | Perfect | NC_000014.9:g.(?_5 4146304)_(54168104 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 54,146,304 | 54,168,104 |
nssv15657362 | Submitted genomic | NC_000014.8:g.(?_5 4613022)_(54634822 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 54,613,022 | 54,634,822 |