nsv6620563
- 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:33,125
- 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: 2000 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 999 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620563 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,548,852 | 46,581,976 |
| nsv6620563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,967,641 | 47,000,765 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282368 | duplication | OSC2120 | SNP array | Probe signal intensity | nssv18282047, nssv18282367 |
| nssv18287386 | duplication | OSC3082 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282368 | Remapped | Perfect | NC_000010.11:g.(?_ 46548852)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,548,852 | 46,581,976 |
| nssv18287386 | Remapped | Perfect | NC_000010.11:g.(?_ 46548852)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,548,852 | 46,581,976 |
| nssv18282368 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4700076 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 47,000,765 | ||
| nssv18287386 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4700076 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 47,000,765 |