nsv3920616
- 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:4,500,081
- Description:GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)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: 15646 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 15648 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 2990 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920616 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 8,831,147 | 13,331,227 |
| nsv3920616 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 8,941,823 | 13,442,041 |
| nsv3920616 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 8,802,823 | 13,303,041 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132927 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000052908.7, VCV000059110.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132927 | Submitted genomic | NC_000019.10:g.(?_ 8831147)_(13331227 _?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 8,831,147 | 13,331,227 |
| nssv15132927 | Submitted genomic | NC_000019.9:g.(?_8 941823)_(13442041_ ?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 8,941,823 | 13,442,041 |
| nssv15132927 | Submitted genomic | NC_000019.8:g.(?_8 802823)_(13303041_ ?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 8,802,823 | 13,303,041 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132927 | GRCh37: NC_000019.9:g.(?_8941823)_(13442041_?)dup, GRCh38: NC_000019.10:g.(?_8831147)_(13331227_?)dup, NCBI36: NC_000019.8:g.(?_8802823)_(13303041_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000052908.7, VCV000059110.2 | 3 |