nsv4676336
- 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:86,915
- Description:GRCh37/hg19 19q13.12(chr19:35811335-35898248)x1 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: 642 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 642 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4676336 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 35,320,432 | 35,407,346 |
nsv4676336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 35,811,335 | 35,898,248 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16208554 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007043.1, VCV000816077.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16208554 | Remapped | Good | NC_000019.10:g.(?_ 35320432)_(3540734 6_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 35,320,432 | 35,407,346 |
nssv16208554 | Submitted genomic | NC_000019.9:g.(?_3 5811335)_(35898248 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 35,811,335 | 35,898,248 |
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 | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16208554 | GRCh37: NC_000019.9:g.(?_35811335)_(35898248_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001007043.1, VCV000816077.1 | 1 |