nsv6623850
- 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:1,596,109
- 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: 4131 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 5270 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623850 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,641 | 2,290,749 |
| nsv6623850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,815,551 | 36,411,684 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18308436 | duplication | OSC6725 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18308436 | Remapped | Good | NT_187614.1:g.(?_6 94641)_(2290749_?) dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,641 | 2,290,749 |
| nssv18308436 | Submitted genomic | NC_000017.10:g.(?_ 34815551)_(3641168 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,551 | 36,411,684 |