nsv3917839
- 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:2,981,664
- Description:GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 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: 6223 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 6223 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1677 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 |
|---|---|---|---|---|---|---|---|
| nsv3917839 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 117,844,958 | 120,826,621 |
| nsv3917839 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 117,563,805 | 120,545,468 |
| nsv3917839 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 119,046,495 | 122,028,158 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137917 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142877.4, VCV000154810.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137917 | Submitted genomic | NC_000003.12:g.(?_ 117844958)_(120826 621_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 117,844,958 | 120,826,621 |
| nssv15137917 | Submitted genomic | NC_000003.11:g.(?_ 117563805)_(120545 468_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 117,563,805 | 120,545,468 |
| nssv15137917 | Submitted genomic | NC_000003.10:g.(?_ 119046495)_(122028 158_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 119,046,495 | 122,028,158 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137917 | GRCh37: NC_000003.11:g.(?_117563805)_(120545468_?)dup, GRCh38: NC_000003.12:g.(?_117844958)_(120826621_?)dup, NCBI36: NC_000003.10:g.(?_119046495)_(122028158_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000142877.4, VCV000154810.2 | 4 |