nsv6637368
- 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:223,719
- Description:GRCh37/hg19 15q26.3(chr15:100921195-101144913)x3 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: 1137 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1137 SVs from 89 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6637368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 100,380,990 | 100,604,708 |
nsv6637368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 100,921,195 | 101,144,913 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18329028 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475014.1, VCV001809169.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18329028 | Remapped | Perfect | NC_000015.10:g.(?_ 100380990)_(100604 708_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 100,380,990 | 100,604,708 |
nssv18329028 | Submitted genomic | NC_000015.9:g.(?_1 00921195)_(1011449 13_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 100,921,195 | 101,144,913 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18329028 | GRCh37: NC_000015.9:g.(?_100921195)_(101144913_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475014.1, VCV001809169.1 | 3 |