nsv4372743
- 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:302,558
- 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: 919 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 919 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4372743 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 137,165,508 | 137,468,065 |
nsv4372743 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 137,923,078 | 138,225,635 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15645730 | copy number loss | 2-0142-001 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15645730 | Remapped | Perfect | NC_000002.12:g.(?_ 137165508)_(137468 065_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,165,508 | 137,468,065 |
nssv15645730 | Submitted genomic | NC_000002.11:g.(?_ 137923078)_(138225 635_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 137,923,078 | 138,225,635 |