nsv3895615
- 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:37,624,680
- Description:GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 102559 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 102735 SVs from 141 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3895615 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 64,345,028 | 101,969,707 |
nsv3895615 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 64,637,227 | 102,509,910 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15147575 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240602.2, VCV000253516.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15147575 | Remapped | Good | NC_000015.10:g.(?_ 64345028)_(1019697 07_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 64,345,028 | 101,969,707 |
nssv15147575 | Submitted genomic | NC_000015.9:g.(?_6 4637227)_(10250991 0_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 64,637,227 | 102,509,910 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15147575 | GRCh37: NC_000015.9:g.(?_64637227)_(102509910_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240602.2, VCV000253516.2 | 3 |