nsv3918318
- 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:1,358,628
- Description:GRCh38/hg38 19p13.3(chr19:3788727-5147354)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: 6401 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 6403 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1372 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918318 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 3,788,727 | 5,147,354 |
| nsv3918318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 3,788,725 | 5,147,365 |
| nsv3918318 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 3,739,725 | 5,098,365 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148253 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000143614.4, VCV000155547.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148253 | Submitted genomic | NC_000019.10:g.(?_ 3788727)_(5147354_ ?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 3,788,727 | 5,147,354 |
| nssv15148253 | Submitted genomic | NC_000019.9:g.(?_3 788725)_(5147365_? )del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 3,788,725 | 5,147,365 |
| nssv15148253 | Submitted genomic | NC_000019.8:g.(?_3 739725)_(5098365_? )del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 3,739,725 | 5,098,365 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148253 | GRCh37: NC_000019.9:g.(?_3788725)_(5147365_?)del, GRCh38: NC_000019.10:g.(?_3788727)_(5147354_?)del, NCBI36: NC_000019.8:g.(?_3739725)_(5098365_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000143614.4, VCV000155547.2 | 1 |