nsv7148111
- 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:5,002,466
- Description:GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 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: 17882 SVs from 134 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: 21510 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148111 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,322,179 |
| nsv7148111 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv7148111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,742,396 | 28,567,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841879 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003326925.1, VCV002578749.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841879 | 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 |
| nssv18841879 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2832217 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,322,179 |
| nssv18841879 | Submitted genomic | NC_000015.9:g.(?_2 2742396)_(28567325 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,742,396 | 28,567,325 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841879 | GRCh37: NC_000015.9:g.(?_22742396)_(28567325_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV003326925.1, VCV002578749.1 | 4 |