nsv3911433
- 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:5,581,162
- Description:GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)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: 13089 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 13089 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 3462 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911433 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 65,445,176 | 71,026,337 |
| nsv3911433 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 65,838,956 | 71,420,117 |
| nsv3911433 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 64,125,223 | 69,706,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146017 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142445.5, VCV000154378.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146017 | Submitted genomic | NC_000012.12:g.(?_ 65445176)_(7102633 7_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 65,445,176 | 71,026,337 |
| nssv15146017 | Submitted genomic | NC_000012.11:g.(?_ 65838956)_(7142011 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 65,838,956 | 71,420,117 |
| nssv15146017 | Submitted genomic | NC_000012.10:g.(?_ 64125223)_(6970638 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 64,125,223 | 69,706,384 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146017 | GRCh37: NC_000012.11:g.(?_65838956)_(71420117_?)del, GRCh38: NC_000012.12:g.(?_65445176)_(71026337_?)del, NCBI36: NC_000012.10:g.(?_64125223)_(69706384_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142445.5, VCV000154378.2 | 1 |