nsv3920078
- 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:1,203,987
- Description:GRCh38/hg38 19p13.3(chr19:1351163-2555149)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: 6162 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 6162 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1744 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920078 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,351,163 | 2,555,149 |
| nsv3920078 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,351,162 | 2,555,147 |
| nsv3920078 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 1,302,162 | 2,506,147 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134855 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136880.4, VCV000147726.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134855 | Submitted genomic | NC_000019.10:g.(?_ 1351163)_(2555149_ ?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,351,163 | 2,555,149 |
| nssv15134855 | Submitted genomic | NC_000019.9:g.(?_1 351162)_(2555147_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,351,162 | 2,555,147 |
| nssv15134855 | Submitted genomic | NC_000019.8:g.(?_1 302162)_(2506147_? )dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 1,302,162 | 2,506,147 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134855 | GRCh37: NC_000019.9:g.(?_1351162)_(2555147_?)dup, GRCh38: NC_000019.10:g.(?_1351163)_(2555149_?)dup, NCBI36: NC_000019.8:g.(?_1302162)_(2506147_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000136880.4, VCV000147726.2 | 3 |