nsv3913991
- 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:6,301,649
- Description:GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)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: 30593 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 28490 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 7694 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913991 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 52,143,873 | 58,445,521 |
| nsv3913991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 52,647,126 | 58,956,888 |
| nsv3913991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 57,338,938 | 63,648,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148182 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142008.4, VCV000153721.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148182 | Submitted genomic | NC_000019.10:g.(?_ 52143873)_(5844552 1_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 52,143,873 | 58,445,521 |
| nssv15148182 | Submitted genomic | NC_000019.9:g.(?_5 2647126)_(58956888 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 52,647,126 | 58,956,888 |
| nssv15148182 | Submitted genomic | NC_000019.8:g.(?_5 7338938)_(63648700 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,338,938 | 63,648,700 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148182 | GRCh37: NC_000019.9:g.(?_52647126)_(58956888_?)dup, GRCh38: NC_000019.10:g.(?_52143873)_(58445521_?)dup, NCBI36: NC_000019.8:g.(?_57338938)_(63648700_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142008.4, VCV000153721.2 | 3 |