nsv6624272
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,433,855
- 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: 4398 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3762 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 4715 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624272 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,459,737 | 37,889,808 |
| nsv6624272 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,641 | 2,128,495 |
| nsv6624272 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,815,551 | 36,249,430 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18293687 | duplication | OSC4036 | SNP array | Probe signal intensity | nssv18292785, nssv18293365, nssv18293686 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18293687 | Remapped | Good | NT_187614.1:g.(?_6 94641)_(2128495_?) dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,641 | 2,128,495 |
| nssv18293687 | Remapped | Good | NC_000017.11:g.(?_ 36459737)_(3788980 8_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,459,737 | 37,889,808 |
| nssv18293687 | Submitted genomic | NC_000017.10:g.(?_ 34815551)_(3624943 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,551 | 36,249,430 |