nsv3912447
- 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:5,419,312
- Description:GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)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: 17734 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 17727 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 4179 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 |
|---|---|---|---|---|---|---|---|
| nsv3912447 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 37,319,377 | 42,738,688 |
| nsv3912447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 37,810,279 | 43,242,840 |
| nsv3912447 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 42,502,119 | 47,934,680 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132525 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050636.6, VCV000057043.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132525 | Submitted genomic | NC_000019.10:g.(?_ 37319377)_(4273868 8_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 37,319,377 | 42,738,688 |
| nssv15132525 | Submitted genomic | NC_000019.9:g.(?_3 7810279)_(43242840 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 37,810,279 | 43,242,840 |
| nssv15132525 | Submitted genomic | NC_000019.8:g.(?_4 2502119)_(47934680 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 42,502,119 | 47,934,680 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132525 | GRCh37: NC_000019.9:g.(?_37810279)_(43242840_?)dup, GRCh38: NC_000019.10:g.(?_37319377)_(42738688_?)dup, NCBI36: NC_000019.8:g.(?_42502119)_(47934680_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000050636.6, VCV000057043.1 | 3 |