nsv3916658
- 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:1,549,781
- Description:GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3 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: 2797 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2797 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 674 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916658 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 69,428,068 | 70,977,848 |
| nsv3916658 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 69,477,219 | 71,026,999 |
| nsv3916658 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 69,559,909 | 71,109,689 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137048 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000142264.5, VCV000154137.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137048 | Submitted genomic | NC_000003.12:g.(?_ 69428068)_(7097784 8_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 69,428,068 | 70,977,848 |
| nssv15137048 | Submitted genomic | NC_000003.11:g.(?_ 69477219)_(7102699 9_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 69,477,219 | 71,026,999 |
| nssv15137048 | Submitted genomic | NC_000003.10:g.(?_ 69559909)_(7110968 9_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,559,909 | 71,109,689 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137048 | GRCh37: NC_000003.11:g.(?_69477219)_(71026999_?)dup, GRCh38: NC_000003.12:g.(?_69428068)_(70977848_?)dup, NCBI36: NC_000003.10:g.(?_69559909)_(71109689_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000142264.5, VCV000154137.2 | 3 |