nsv3921076
- 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:9,059,998
- Description:GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)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: 36652 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 36639 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9621 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921076 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 15,133,594 | 24,193,591 |
| nsv3921076 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 15,244,405 | 24,376,393 |
| nsv3921076 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 15,105,405 | 24,168,233 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145840 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136696.5, VCV000147522.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145840 | Submitted genomic | NC_000019.10:g.(?_ 15133594)_(2419359 1_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 15,133,594 | 24,193,591 |
| nssv15145840 | Submitted genomic | NC_000019.9:g.(?_1 5244405)_(24376393 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,244,405 | 24,376,393 |
| nssv15145840 | Submitted genomic | NC_000019.8:g.(?_1 5105405)_(24168233 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 15,105,405 | 24,168,233 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145840 | GRCh37: NC_000019.9:g.(?_15244405)_(24376393_?)dup, GRCh38: NC_000019.10:g.(?_15133594)_(24193591_?)dup, NCBI36: NC_000019.8:g.(?_15105405)_(24168233_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136696.5, VCV000147522.2 | 3 |