nsv6630721
- 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:56,130
- 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: 292 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630721 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 125,207,828 | 125,263,957 |
| nsv6630721 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 125,528,974 | 125,585,103 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299020 | duplication | OSC5217 | SNP array | Probe signal intensity | nssv18299019, nssv18299601, nssv18299602 |
| nssv18299341 | duplication | OSC5280 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299020 | Remapped | Perfect | NC_000006.12:g.(?_ 125207828)_(125263 957_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 125,207,828 | 125,263,957 |
| nssv18299341 | Remapped | Perfect | NC_000006.12:g.(?_ 125207828)_(125263 957_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 125,207,828 | 125,263,957 |
| nssv18299020 | Submitted genomic | NC_000006.11:g.(?_ 125528974)_(125585 103_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 125,528,974 | 125,585,103 | ||
| nssv18299341 | Submitted genomic | NC_000006.11:g.(?_ 125528974)_(125585 103_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 125,528,974 | 125,585,103 |