nsv6625399
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,019
- 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: 360 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 373 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 151,368,199 | 151,435,217 |
| nsv6625399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 151,340,675 | 151,407,693 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18297852 | duplication | OSC5043 | SNP array | Probe signal intensity | 6 |
| nssv18297873 | duplication | OSC5057 | SNP array | Probe signal intensity | 8 |
| nssv18300162 | duplication | OSC5402 | SNP array | Probe signal intensity | nssv18299476, nssv18300163, nssv18301060 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18297852 | Remapped | Perfect | NC_000001.11:g.(?_ 151368199)_(151435 217_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,368,199 | 151,435,217 |
| nssv18297873 | Remapped | Perfect | NC_000001.11:g.(?_ 151368199)_(151435 217_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,368,199 | 151,435,217 |
| nssv18300162 | Remapped | Perfect | NC_000001.11:g.(?_ 151368199)_(151435 217_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,368,199 | 151,435,217 |
| nssv18297852 | Submitted genomic | NC_000001.10:g.(?_ 151340675)_(151407 693_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,340,675 | 151,407,693 | ||
| nssv18297873 | Submitted genomic | NC_000001.10:g.(?_ 151340675)_(151407 693_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,340,675 | 151,407,693 | ||
| nssv18300162 | Submitted genomic | NC_000001.10:g.(?_ 151340675)_(151407 693_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,340,675 | 151,407,693 |