nsv3921787
- 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:1,443,612
- Description:GRCh38/hg38 19q13.32(chr19:45387389-46831000)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: 5302 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 5302 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1257 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921787 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 45,387,389 | 46,831,000 |
| nsv3921787 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 45,890,647 | 47,334,257 |
| nsv3921787 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 50,582,487 | 52,026,097 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147438 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137832.5, VCV000148766.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147438 | Submitted genomic | NC_000019.10:g.(?_ 45387389)_(4683100 0_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 45,387,389 | 46,831,000 |
| nssv15147438 | Submitted genomic | NC_000019.9:g.(?_4 5890647)_(47334257 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,890,647 | 47,334,257 |
| nssv15147438 | Submitted genomic | NC_000019.8:g.(?_5 0582487)_(52026097 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 50,582,487 | 52,026,097 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147438 | GRCh37: NC_000019.9:g.(?_45890647)_(47334257_?)del, GRCh38: NC_000019.10:g.(?_45387389)_(46831000_?)del, NCBI36: NC_000019.8:g.(?_50582487)_(52026097_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000137832.5, VCV000148766.2 | 1 |