nsv3916538
- 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:34,302,990
- Description:GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 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: 105881 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 105386 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 29562 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916538 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 77,187 | 34,380,176 |
| nsv3916538 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 282,465 | 34,533,111 |
| nsv3916538 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 56,614 | 34,424,378 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146543 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053660.8, VCV000059794.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146543 | Submitted genomic | NC_000012.12:g.(?_ 77187)_(34380176_? )dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 77,187 | 34,380,176 |
| nssv15146543 | Submitted genomic | NC_000012.11:g.(?_ 282465)_(34533111_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 282,465 | 34,533,111 |
| nssv15146543 | Submitted genomic | NC_000012.10:g.(?_ 56614)_(34424378_? )dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 56,614 | 34,424,378 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146543 | GRCh37: NC_000012.11:g.(?_282465)_(34533111_?)dup, GRCh38: NC_000012.12:g.(?_77187)_(34380176_?)dup, NCBI36: NC_000012.10:g.(?_56614)_(34424378_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000053660.8, VCV000059794.2 | 3 |