nsv4456455
- 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:241,321
- Description:GRCh37/hg19 15q24.1(chr15:72825914-73067234)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: 650 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 650 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456455 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,533,573 | 72,774,893 |
nsv4456455 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,825,914 | 73,067,234 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772120 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846690.2, VCV000685982.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772120 | Remapped | Perfect | NC_000015.10:g.(?_ 72533573)_(7277489 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,533,573 | 72,774,893 |
nssv15772120 | Submitted genomic | NC_000015.9:g.(?_7 2825914)_(73067234 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,825,914 | 73,067,234 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772120 | GRCh37: NC_000015.9:g.(?_72825914)_(73067234_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846690.2, VCV000685982.2 | 1 |