nsv3890776
- 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:14,640
- Description:GRCh37/hg19 19q13.2(chr19:39888449-39903088)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: 159 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3890776 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,397,809 | 39,412,448 |
nsv3890776 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 39,888,449 | 39,903,088 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15174324 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752679.2, VCV000616043.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15174324 | Remapped | Perfect | NC_000019.10:g.(?_ 39397809)_(3941244 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,397,809 | 39,412,448 |
nssv15174324 | Submitted genomic | NC_000019.9:g.(?_3 9888449)_(39903088 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 39,888,449 | 39,903,088 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15174324 | GRCh37: NC_000019.9:g.(?_39888449)_(39903088_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000752679.2, VCV000616043.2 | 0 |