nsv3914149
- 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:34,482,020
- Description:GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)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: 106481 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 106164 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 29693 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 |
|---|---|---|---|---|---|---|---|
| nsv3914149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,255 | 34,603,274 |
| nsv3914149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 282,465 | 34,756,209 |
| nsv3914149 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 100,682 | 34,647,476 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146700 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136611.6, VCV000147419.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146700 | Submitted genomic | NC_000012.12:g.(?_ 121255)_(34603274_ ?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,255 | 34,603,274 |
| nssv15146700 | Submitted genomic | NC_000012.11:g.(?_ 282465)_(34756209_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 282,465 | 34,756,209 |
| nssv15146700 | Submitted genomic | NC_000012.10:g.(?_ 100682)_(34647476_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 100,682 | 34,647,476 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146700 | GRCh37: NC_000012.11:g.(?_282465)_(34756209_?)dup, GRCh38: NC_000012.12:g.(?_121255)_(34603274_?)dup, NCBI36: NC_000012.10:g.(?_100682)_(34647476_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136611.6, VCV000147419.2 | 3 |