nsv3912952
- 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:8,800,696
- Description:GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)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: 27298 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 27301 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 7794 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912952 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 25,263,833 | 34,064,528 |
| nsv3912952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 25,416,767 | 34,217,463 |
| nsv3912952 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 25,308,034 | 34,108,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131918 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133858.5, VCV000144376.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131918 | Submitted genomic | NC_000012.12:g.(?_ 25263833)_(3406452 8_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 25,263,833 | 34,064,528 |
| nssv15131918 | Submitted genomic | NC_000012.11:g.(?_ 25416767)_(3421746 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 25,416,767 | 34,217,463 |
| nssv15131918 | Submitted genomic | NC_000012.10:g.(?_ 25308034)_(3410873 0_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 25,308,034 | 34,108,730 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131918 | GRCh37: NC_000012.11:g.(?_25416767)_(34217463_?)del, GRCh38: NC_000012.12:g.(?_25263833)_(34064528_?)del, NCBI36: NC_000012.10:g.(?_25308034)_(34108730_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000133858.5, VCV000144376.2 | 1 |