nsv4386604
- 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:186,067
- 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: 1231 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1241 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386604 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,977,024 | 63,163,090 |
| nsv4386604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 62,437,402 | 62,623,468 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15692702 | copy number gain | OCD53-S_0625-8346-3 | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15692702 | Remapped | Perfect | NC_000007.14:g.(?_ 62977024)_(6316309 0_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,977,024 | 63,163,090 |
| nssv15692702 | Submitted genomic | NC_000007.13:g.(?_ 62437402)_(6262346 8_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,437,402 | 62,623,468 |