nsv4685775
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,166,946
- Description:GRCh37/hg19 19p13.2(chr19:10642984-12810067) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7402 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 7406 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685775 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 10,532,308 | 12,699,253 |
| nsv4685775 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 10,642,984 | 12,810,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216662 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV001249213.1, VCV000972927.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216662 | Remapped | Good | NC_000019.10:g.(?_ 10532308)_(1269925 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 10,532,308 | 12,699,253 |
| nssv16216662 | Submitted genomic | NC_000019.9:g.(?_1 0642984)_(12810067 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 10,642,984 | 12,810,067 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216662 | GRCh37: NC_000019.9:g.(?_10642984)_(12810067_?)del | copy number loss | unknown | not provided | not provided | ClinVar | RCV001249213.1, VCV000972927.1 |