nsv4382267
- 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:29,235
- 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: 233 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 41 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4382267 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 114,146,156 | 114,175,390 |
nsv4382267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 113,481,853 | 113,511,087 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15629664 | copy number loss | 1-0568-001 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15629664 | Remapped | Perfect | NC_000005.10:g.(?_ 114146156)_(114175 390_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 114,146,156 | 114,175,390 |
nssv15629664 | Submitted genomic | NC_000005.9:g.(?_1 13481853)_(1135110 87_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 113,481,853 | 113,511,087 |