nsv4370648
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,031
- Publication(s):Zarrei et al. 2019
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: 195 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 451 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370648 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,663 | 2,272,693 |
| nsv4370648 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,350,598 | 36,393,628 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15614285 | copy number gain | 1-0718-003 | SNP array | Genotyping | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15614285 | Remapped | Perfect | NT_187614.1:g.(?_2 229663)_(2272693_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,663 | 2,272,693 |
| nssv15614285 | Submitted genomic | NC_000017.10:g.(?_ 36350598)_(3639362 8_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,598 | 36,393,628 |