nsv3924338
- 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:18,088,893
- Description:GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)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: 43005 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 42984 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 11140 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924338 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 91,044,318 | 109,133,210 |
| nsv3924338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 91,438,095 | 109,571,015 |
| nsv3924338 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 89,962,226 | 108,055,398 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137772 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142447.5, VCV000154380.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137772 | Submitted genomic | NC_000012.12:g.(?_ 91044318)_(1091332 10_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 91,044,318 | 109,133,210 |
| nssv15137772 | Submitted genomic | NC_000012.11:g.(?_ 91438095)_(1095710 15_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 91,438,095 | 109,571,015 |
| nssv15137772 | Submitted genomic | NC_000012.10:g.(?_ 89962226)_(1080553 98_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 89,962,226 | 108,055,398 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137772 | GRCh37: NC_000012.11:g.(?_91438095)_(109571015_?)dup, GRCh38: NC_000012.12:g.(?_91044318)_(109133210_?)dup, NCBI36: NC_000012.10:g.(?_89962226)_(108055398_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142447.5, VCV000154380.2 | 3 |