nsv3917314
- 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:632,516
- Description:GRCh38/hg38 19p13.2(chr19:7194917-7827432)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: 2897 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2868 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 678 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917314 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 7,194,917 | 7,827,432 |
| nsv3917314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 7,194,928 | 7,892,318 |
| nsv3917314 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 7,145,928 | 7,798,318 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131791 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000054108.5, VCV000060234.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131791 | Submitted genomic | NC_000019.10:g.(?_ 7194917)_(7827432_ ?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 7,194,917 | 7,827,432 |
| nssv15131791 | Submitted genomic | NC_000019.9:g.(?_7 194928)_(7892318_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 7,194,928 | 7,892,318 |
| nssv15131791 | Submitted genomic | NC_000019.8:g.(?_7 145928)_(7798318_? )dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 7,145,928 | 7,798,318 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131791 | GRCh37: NC_000019.9:g.(?_7194928)_(7892318_?)dup, GRCh38: NC_000019.10:g.(?_7194917)_(7827432_?)dup, NCBI36: NC_000019.8:g.(?_7145928)_(7798318_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000054108.5, VCV000060234.1 | 3 |