nsv3921916
- 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:1,210,563
- Description:GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)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: 5529 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 5274 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 1600 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921916 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,930,894 | 43,141,456 |
| nsv3921916 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 42,514,712 | 43,645,608 |
| nsv3921916 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 47,126,886 | 48,337,448 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134471 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053975.4, VCV000060102.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134471 | Submitted genomic | NC_000019.10:g.(?_ 41930894)_(4314145 6_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,930,894 | 43,141,456 |
| nssv15134471 | Submitted genomic | NC_000019.9:g.(?_4 2514712)_(43645608 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 42,514,712 | 43,645,608 |
| nssv15134471 | Submitted genomic | NC_000019.8:g.(?_4 7126886)_(48337448 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 47,126,886 | 48,337,448 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134471 | GRCh37: NC_000019.9:g.(?_42514712)_(43645608_?)del, GRCh38: NC_000019.10:g.(?_41930894)_(43141456_?)del, NCBI36: NC_000019.8:g.(?_47126886)_(48337448_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053975.4, VCV000060102.1 | 1 |