nsv3922509
- 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:589,898
- Description:GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 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: 2027 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2027 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922509 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 10,330,655 | 10,920,552 |
| nsv3922509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 10,441,331 | 11,031,228 |
| nsv3922509 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 10,302,331 | 10,892,228 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138630 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000141708.4, VCV000153250.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138630 | Submitted genomic | NC_000019.10:g.(?_ 10330655)_(1092055 2_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 10,330,655 | 10,920,552 |
| nssv15138630 | Submitted genomic | NC_000019.9:g.(?_1 0441331)_(11031228 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 10,441,331 | 11,031,228 |
| nssv15138630 | Submitted genomic | NC_000019.8:g.(?_1 0302331)_(10892228 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 10,302,331 | 10,892,228 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138630 | GRCh37: NC_000019.9:g.(?_10441331)_(11031228_?)del, GRCh38: NC_000019.10:g.(?_10330655)_(10920552_?)del, NCBI36: NC_000019.8:g.(?_10302331)_(10892228_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000141708.4, VCV000153250.2 | 1 |