nsv3911630
- 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:160,183
- Description:GRCh38/hg38 19p13.2(chr19:7723086-7883268)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: 694 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 694 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911630 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 7,723,086 | 7,883,268 |
| nsv3911630 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 7,787,972 | 7,948,153 |
| nsv3911630 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 7,693,972 | 7,854,153 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136763 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000139375.4, VCV000150535.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136763 | Submitted genomic | NC_000019.10:g.(?_ 7723086)_(7883268_ ?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 7,723,086 | 7,883,268 |
| nssv15136763 | Submitted genomic | NC_000019.9:g.(?_7 787972)_(7948153_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 7,787,972 | 7,948,153 |
| nssv15136763 | Submitted genomic | NC_000019.8:g.(?_7 693972)_(7854153_? )dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 7,693,972 | 7,854,153 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136763 | GRCh37: NC_000019.9:g.(?_7787972)_(7948153_?)dup, GRCh38: NC_000019.10:g.(?_7723086)_(7883268_?)dup, NCBI36: NC_000019.8:g.(?_7693972)_(7854153_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000139375.4, VCV000150535.2 | 3 |