nsv3913894
- 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:18,932,914
- Description:GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)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: 66161 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 65977 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 15518 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 |
|---|---|---|---|---|---|---|---|
| nsv3913894 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 114,268,403 | 133,201,316 |
| nsv3913894 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 114,706,208 | 133,777,902 |
| nsv3913894 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 113,190,591 | 132,287,975 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148260 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143656.9, VCV000155589.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148260 | Submitted genomic | NC_000012.12:g.(?_ 114268403)_(133201 316_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 114,268,403 | 133,201,316 |
| nssv15148260 | Submitted genomic | NC_000012.11:g.(?_ 114706208)_(133777 902_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 114,706,208 | 133,777,902 |
| nssv15148260 | Submitted genomic | NC_000012.10:g.(?_ 113190591)_(132287 975_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 113,190,591 | 132,287,975 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148260 | GRCh37: NC_000012.11:g.(?_114706208)_(133777902_?)dup, GRCh38: NC_000012.12:g.(?_114268403)_(133201316_?)dup, NCBI36: NC_000012.10:g.(?_113190591)_(132287975_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143656.9, VCV000155589.2 | 3 |