nsv3910990
- 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:1,809,113
- Description:
GRCh38/hg38 19p13.3(chr19:259395-2068507)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: 13753 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 13753 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 3811 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910990 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 259,395 | 2,068,507 |
| nsv3910990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 259,395 | 2,068,506 |
| nsv3910990 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 210,395 | 2,019,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132880 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135433.6, VCV000146110.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132880 | Submitted genomic | NC_000019.10:g.(?_ 259395)_(2068507_? )dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 259,395 | 2,068,507 |
| nssv15132880 | Submitted genomic | NC_000019.9:g.(?_2 59395)_(2068506_?) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 259,395 | 2,068,506 |
| nssv15132880 | Submitted genomic | NC_000019.8:g.(?_2 10395)_(2019506_?) dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 210,395 | 2,019,506 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132880 | GRCh37: NC_000019.9:g.(?_259395)_(2068506_?)dup, GRCh38: NC_000019.10:g.(?_259395)_(2068507_?)dup, NCBI36: NC_000019.8:g.(?_210395)_(2019506_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000135433.6, VCV000146110.2 | 3 |