nsv6623757
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,388
- 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: 397 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 397 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623757 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 75,530,274 | 75,543,661 |
| nsv6623757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 75,564,172 | 75,577,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287060 | duplication | OSC3097 | SNP array | Probe signal intensity | 11 |
| nssv18292831 | duplication | OSC4071 | SNP array | Probe signal intensity | 5 |
| nssv18293551 | duplication | OSC4168 | SNP array | Probe signal intensity | nssv18293205, nssv18293876, nssv18293877 |
| nssv18293907 | duplication | OSC4196 | SNP array | Probe signal intensity | nssv18293010, nssv18293585 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287060 | Remapped | Perfect | NC_000016.10:g.(?_ 75530274)_(7554366 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,530,274 | 75,543,661 |
| nssv18292831 | Remapped | Perfect | NC_000016.10:g.(?_ 75530274)_(7554366 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,530,274 | 75,543,661 |
| nssv18293551 | Remapped | Perfect | NC_000016.10:g.(?_ 75530274)_(7554366 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,530,274 | 75,543,661 |
| nssv18293907 | Remapped | Perfect | NC_000016.10:g.(?_ 75530274)_(7554366 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,530,274 | 75,543,661 |
| nssv18287060 | Submitted genomic | NC_000016.9:g.(?_7 5564172)_(75577559 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,564,172 | 75,577,559 | ||
| nssv18292831 | Submitted genomic | NC_000016.9:g.(?_7 5564172)_(75577559 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,564,172 | 75,577,559 | ||
| nssv18293551 | Submitted genomic | NC_000016.9:g.(?_7 5564172)_(75577559 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,564,172 | 75,577,559 | ||
| nssv18293907 | Submitted genomic | NC_000016.9:g.(?_7 5564172)_(75577559 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,564,172 | 75,577,559 |