nsv6630324
- 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:29,134
- 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: 398 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630324 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 181,151,750 | 181,180,883 |
| nsv6630324 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,578,750 | 180,607,883 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18291116 | duplication | OSC3750 | SNP array | Probe signal intensity | nssv18291114, nssv18290521, nssv18290766 |
| nssv18293230 | duplication | OSC4184 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18291116 | Remapped | Perfect | NC_000005.10:g.(?_ 181151750)_(181180 883_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 181,151,750 | 181,180,883 |
| nssv18293230 | Remapped | Perfect | NC_000005.10:g.(?_ 181151750)_(181180 883_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 181,151,750 | 181,180,883 |
| nssv18291116 | Submitted genomic | NC_000005.9:g.(?_1 80578750)_(1806078 83_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,578,750 | 180,607,883 | ||
| nssv18293230 | Submitted genomic | NC_000005.9:g.(?_1 80578750)_(1806078 83_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,578,750 | 180,607,883 |