nsv3910710
- 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:2,739,577
- Description:GRCh38/hg38 19p13.3(chr19:1549144-4288720)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: 13925 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 13925 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3258 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 |
|---|---|---|---|---|---|---|---|
| nsv3910710 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,549,144 | 4,288,720 |
| nsv3910710 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,549,143 | 4,288,717 |
| nsv3910710 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 1,500,143 | 4,239,717 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148011 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134795.6, VCV000145414.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148011 | Submitted genomic | NC_000019.10:g.(?_ 1549144)_(4288720_ ?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,549,144 | 4,288,720 |
| nssv15148011 | Submitted genomic | NC_000019.9:g.(?_1 549143)_(4288717_? )del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,549,143 | 4,288,717 |
| nssv15148011 | Submitted genomic | NC_000019.8:g.(?_1 500143)_(4239717_? )del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 1,500,143 | 4,239,717 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148011 | GRCh37: NC_000019.9:g.(?_1549143)_(4288717_?)del, GRCh38: NC_000019.10:g.(?_1549144)_(4288720_?)del, NCBI36: NC_000019.8:g.(?_1500143)_(4239717_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134795.6, VCV000145414.2 | 1 |