nsv3924221
- 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:415,436
- Description:GRCh38/hg38 12q24.13(chr12:112307532-112722967)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: 1233 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1234 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924221 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 112,307,532 | 112,722,967 |
| nsv3924221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 112,745,336 | 113,160,772 |
| nsv3924221 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 111,229,719 | 111,645,155 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161294 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053687.5, VCV000059819.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161294 | Submitted genomic | NC_000012.12:g.(?_ 112307532)_(112722 967_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 112,307,532 | 112,722,967 |
| nssv15161294 | Submitted genomic | NC_000012.11:g.(?_ 112745336)_(113160 772_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 112,745,336 | 113,160,772 |
| nssv15161294 | Submitted genomic | NC_000012.10:g.(?_ 111229719)_(111645 155_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 111,229,719 | 111,645,155 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161294 | GRCh37: NC_000012.11:g.(?_112745336)_(113160772_?)dup, GRCh38: NC_000012.12:g.(?_112307532)_(112722967_?)dup, NCBI36: NC_000012.10:g.(?_111229719)_(111645155_?)dup | copy number gain | paternal | See cases | Pathogenic | ClinVar | RCV000053687.5, VCV000059819.1 | 3 |