nsv3924723
- 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:7,194,481
- Description:GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)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: 17996 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 17996 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 4892 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924723 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 69,769,737 | 76,964,217 |
| nsv3924723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 70,163,517 | 77,357,997 |
| nsv3924723 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 68,449,784 | 75,882,128 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147333 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136267.4, VCV000147046.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147333 | Submitted genomic | NC_000012.12:g.(?_ 69769737)_(7696421 7_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 69,769,737 | 76,964,217 |
| nssv15147333 | Submitted genomic | NC_000012.11:g.(?_ 70163517)_(7735799 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 70,163,517 | 77,357,997 |
| nssv15147333 | Submitted genomic | NC_000012.10:g.(?_ 68449784)_(7588212 8_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 68,449,784 | 75,882,128 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147333 | GRCh37: NC_000012.11:g.(?_70163517)_(77357997_?)del, GRCh38: NC_000012.12:g.(?_69769737)_(76964217_?)del, NCBI36: NC_000012.10:g.(?_68449784)_(75882128_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000136267.4, VCV000147046.1 | 1 |