nsv6637399
- 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:4,980,496
- Description:GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)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: 17788 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 7090 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 21252 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637399 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,300,209 |
| nsv6637399 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv6637399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,422 | 28,545,355 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330302 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474562.1, VCV001808717.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330302 | Remapped | Pass | NW_011332701.1:g.( ?_1)_(4542614_?)du p | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nssv18330302 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2830020 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,300,209 |
| nssv18330302 | Submitted genomic | NC_000015.9:g.(?_2 2770422)_(28545355 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,422 | 28,545,355 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330302 | GRCh37: NC_000015.9:g.(?_22770422)_(28545355_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002474562.1, VCV001808717.1 | 3 |