nsv3906931
- 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:6,191
- Description:GRCh37/hg19 19p13.11(chr19:19168732-19174922)x0 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: 86 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3906931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 19,057,923 | 19,064,113 |
nsv3906931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 19,168,732 | 19,174,922 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15174502 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752605.2, VCV000615969.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15174502 | Remapped | Perfect | NC_000019.10:g.(?_ 19057923)_(1906411 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,057,923 | 19,064,113 |
nssv15174502 | Submitted genomic | NC_000019.9:g.(?_1 9168732)_(19174922 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 19,168,732 | 19,174,922 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15174502 | GRCh37: NC_000019.9:g.(?_19168732)_(19174922_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000752605.2, VCV000615969.2 | 0 |