nsv6625990
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:105,168
- Publication(s):Zarrei et al. 2023
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: 585 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 238,506,365 | 238,611,532 |
| nsv6625990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 238,669,665 | 238,774,832 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282523 | duplication | OSC2232 | SNP array | Probe signal intensity | nssv18282199, nssv18282200, nssv18282524 |
| nssv18286305 | duplication | OSC2725 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282523 | Remapped | Perfect | NC_000001.11:g.(?_ 238506365)_(238611 532_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,506,365 | 238,611,532 |
| nssv18286305 | Remapped | Perfect | NC_000001.11:g.(?_ 238506365)_(238611 532_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,506,365 | 238,611,532 |
| nssv18282523 | Submitted genomic | NC_000001.10:g.(?_ 238669665)_(238774 832_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 238,669,665 | 238,774,832 | ||
| nssv18286305 | Submitted genomic | NC_000001.10:g.(?_ 238669665)_(238774 832_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 238,669,665 | 238,774,832 |