nsv7137213
- 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:6,774,482
- Description:GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) AND 15q11q13 microduplication syndrome
- Publication(s):Finucane et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 22222 SVs from 139 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: 25714 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv7137213 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | - | 23,319,714 | - | 30,094,195 |
| nsv7137213 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | - | 1 | 4,542,614 | - |
| nsv7137213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,421 | - | - | 30,386,398 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830991 | copy number gain | Multiple | Multiple | 15q Duplication Syndrome and Related Disorders; 15q11q13 microduplication syndrome; CHROMOSOME 15q11-q13 DUPLICATION SYNDROME; Chromosome 15q11-q13 duplication syndrome | Pathogenic | ClinVar | RCV003319585.1, VCV002574688.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18830991 | 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 | - |
| nssv18830991 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(?_30094 195)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | - | 23,319,714 | - | 30,094,195 |
| nssv18830991 | Submitted genomic | NC_000015.9:g.(227 70421_?)_(?_303863 98)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,421 | - | - | 30,386,398 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830991 | GRCh37: NC_000015.9:g.(22770421_?)_(?_30386398)dup | copy number gain | unknown | 15q Duplication Syndrome and Related Disorders; 15q11q13 microduplication syndrome; CHROMOSOME 15q11-q13 DUPLICATION SYNDROME; Chromosome 15q11-q13 duplication syndrome | Pathogenic | ClinVar | RCV003319585.1, VCV002574688.1 |