nsv3916234
- 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:6,960,010
- Description:GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 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: 16278 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 16255 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3828 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916234 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 105,234,677 | 112,194,686 |
| nsv3916234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 105,628,455 | 112,632,490 |
| nsv3916234 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 104,152,585 | 111,116,873 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132060 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050807.4, VCV000057157.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132060 | Submitted genomic | NC_000012.12:g.(?_ 105234677)_(112194 686_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 105,234,677 | 112,194,686 |
| nssv15132060 | Submitted genomic | NC_000012.11:g.(?_ 105628455)_(112632 490_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 105,628,455 | 112,632,490 |
| nssv15132060 | Submitted genomic | NC_000012.10:g.(?_ 104152585)_(111116 873_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 104,152,585 | 111,116,873 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132060 | GRCh37: NC_000012.11:g.(?_105628455)_(112632490_?)del, GRCh38: NC_000012.12:g.(?_105234677)_(112194686_?)del, NCBI36: NC_000012.10:g.(?_104152585)_(111116873_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050807.4, VCV000057157.1 | 1 |