nsv3924262
- 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:34,618,283
- Description:GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 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: 107018 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 106873 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 29819 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 |
|---|---|---|---|---|---|---|---|
| nsv3924262 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 64,620 | 34,682,902 |
| nsv3924262 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 173,786 | 34,835,837 |
| nsv3924262 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 44,047 | 34,727,104 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146010 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142149.6, VCV000153962.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146010 | Submitted genomic | NC_000012.12:g.(?_ 64620)_(34682902_? )dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 64,620 | 34,682,902 |
| nssv15146010 | Submitted genomic | NC_000012.11:g.(?_ 173786)_(34835837_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 173,786 | 34,835,837 |
| nssv15146010 | Submitted genomic | NC_000012.10:g.(?_ 44047)_(34727104_? )dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 44,047 | 34,727,104 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146010 | GRCh37: NC_000012.11:g.(?_173786)_(34835837_?)dup, GRCh38: NC_000012.12:g.(?_64620)_(34682902_?)dup, NCBI36: NC_000012.10:g.(?_44047)_(34727104_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142149.6, VCV000153962.2 | 4 |