nsv3915373
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,542,554
- Description:GRCh38/hg38 19p13.3(chr19:1565575-4108128)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: 12946 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 12946 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3098 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915373 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,565,575 | 4,108,128 |
| nsv3915373 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,565,574 | 4,108,126 |
| nsv3915373 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 1,516,574 | 4,059,126 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147142 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052878.6, VCV000059081.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147142 | Submitted genomic | NC_000019.10:g.(?_ 1565575)_(4108128_ ?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,565,575 | 4,108,128 |
| nssv15147142 | Submitted genomic | NC_000019.9:g.(?_1 565574)_(4108126_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,565,574 | 4,108,126 |
| nssv15147142 | Submitted genomic | NC_000019.8:g.(?_1 516574)_(4059126_? )dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 1,516,574 | 4,059,126 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147142 | GRCh37: NC_000019.9:g.(?_1565574)_(4108126_?)dup, GRCh38: NC_000019.10:g.(?_1565575)_(4108128_?)dup, NCBI36: NC_000019.8:g.(?_1516574)_(4059126_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000052878.6, VCV000059081.1 | 3 |