nsv4684433
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,559,605
- Publication(s):Smajlagic et al. 2020
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: 4140 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5222 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684433 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,641 | 2,254,245 |
| nsv4684433 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,815,551 | 36,375,180 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215384 | deletion | mb2:o1 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215384 | Remapped | Good | NT_187614.1:g.(?_6 94641)_(2254245_?) del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,641 | 2,254,245 |
| nssv16215384 | Submitted genomic | NC_000017.10:g.(?_ 34815551)_(3637518 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,551 | 36,375,180 |