nsv3911341
- 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:7,510,470
- Description:GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)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: 16762 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 16762 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 4455 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 |
|---|---|---|---|---|---|---|---|
| nsv3911341 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 112,520,553 | 120,031,022 |
| nsv3911341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 112,239,400 | 119,749,869 |
| nsv3911341 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 113,722,090 | 121,232,559 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137869 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142725.6, VCV000154658.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137869 | Submitted genomic | NC_000003.12:g.(?_ 112520553)_(120031 022_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 112,520,553 | 120,031,022 |
| nssv15137869 | Submitted genomic | NC_000003.11:g.(?_ 112239400)_(119749 869_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 112,239,400 | 119,749,869 |
| nssv15137869 | Submitted genomic | NC_000003.10:g.(?_ 113722090)_(121232 559_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 113,722,090 | 121,232,559 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137869 | GRCh37: NC_000003.11:g.(?_112239400)_(119749869_?)del, GRCh38: NC_000003.12:g.(?_112520553)_(120031022_?)del, NCBI36: NC_000003.10:g.(?_113722090)_(121232559_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142725.6, VCV000154658.2 | 1 |