nsv6310464
- 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:287,976
- Description:NC_000019.9:g.(?_12917488)_(13205463_?)del 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: 902 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 902 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 12,806,674 | 13,094,649 |
nsv6310464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 12,917,488 | 13,205,463 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17973444 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002016875.2, VCV001511662.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17973444 | Remapped | Perfect | NC_000019.10:g.(?_ 12806674)_(1309464 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,806,674 | 13,094,649 |
nssv17973444 | Submitted genomic | NC_000019.9:g.(?_1 2917488)_(13205463 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 12,917,488 | 13,205,463 |
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 |
---|---|---|---|---|---|---|---|
nssv17973444 | GRCh37: NC_000019.9:g.(?_12917488)_(13205463_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV002016875.2, VCV001511662.2 |