nsv3912480
- 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:2,162,247
- Description:GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)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: 8095 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 8095 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1782 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912480 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 12,580,427 | 14,742,673 |
| nsv3912480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 12,691,241 | 14,853,485 |
| nsv3912480 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 12,552,241 | 14,714,485 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133775 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135937.5, VCV000146686.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133775 | Submitted genomic | NC_000019.10:g.(?_ 12580427)_(1474267 3_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 12,580,427 | 14,742,673 |
| nssv15133775 | Submitted genomic | NC_000019.9:g.(?_1 2691241)_(14853485 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 12,691,241 | 14,853,485 |
| nssv15133775 | Submitted genomic | NC_000019.8:g.(?_1 2552241)_(14714485 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,552,241 | 14,714,485 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133775 | GRCh37: NC_000019.9:g.(?_12691241)_(14853485_?)del, GRCh38: NC_000019.10:g.(?_12580427)_(14742673_?)del, NCBI36: NC_000019.8:g.(?_12552241)_(14714485_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135937.5, VCV000146686.2 | 1 |