nsv3913730
- 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:33,398,413
- Description:GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)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: 109330 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 109313 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 28173 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913730 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 11,227,942 | 44,626,354 |
| nsv3913730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,338,618 | 45,129,651 |
| nsv3913730 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 11,199,618 | 49,821,491 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147244 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133888.5, VCV000144406.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147244 | Submitted genomic | NC_000019.10:g.(?_ 11227942)_(4462635 4_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 11,227,942 | 44,626,354 |
| nssv15147244 | Submitted genomic | NC_000019.9:g.(?_1 1338618)_(45129651 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,338,618 | 45,129,651 |
| nssv15147244 | Submitted genomic | NC_000019.8:g.(?_1 1199618)_(49821491 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 11,199,618 | 49,821,491 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147244 | GRCh37: NC_000019.9:g.(?_11338618)_(45129651_?)dup, GRCh38: NC_000019.10:g.(?_11227942)_(44626354_?)dup, NCBI36: NC_000019.8:g.(?_11199618)_(49821491_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133888.5, VCV000144406.2 | 3 |