nsv3912340
- 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:585,980
- Description:GRCh38/hg38 3p21.31(chr3:45691931-46277910)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: 1297 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1297 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912340 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 45,691,931 | 46,277,910 |
| nsv3912340 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 45,733,423 | 46,319,401 |
| nsv3912340 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 45,708,427 | 46,294,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132817 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000134890.5, VCV000145538.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132817 | Submitted genomic | NC_000003.12:g.(?_ 45691931)_(4627791 0_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 45,691,931 | 46,277,910 |
| nssv15132817 | Submitted genomic | NC_000003.11:g.(?_ 45733423)_(4631940 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 45,733,423 | 46,319,401 |
| nssv15132817 | Submitted genomic | NC_000003.10:g.(?_ 45708427)_(4629440 5_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 45,708,427 | 46,294,405 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132817 | GRCh37: NC_000003.11:g.(?_45733423)_(46319401_?)dup, GRCh38: NC_000003.12:g.(?_45691931)_(46277910_?)dup, NCBI36: NC_000003.10:g.(?_45708427)_(46294405_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000134890.5, VCV000145538.2 | 3 |