nsv3907461
- 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:19,446,758
- Description:GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)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: 56825 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 56731 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 15407 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907461 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 63,843 | 19,510,600 |
| nsv3907461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 105,526 | 19,552,092 |
| nsv3907461 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 80,526 | 19,527,096 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146372 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051719.7, VCV000057977.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146372 | Submitted genomic | NC_000003.12:g.(?_ 63843)_(19510600_? )dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 63,843 | 19,510,600 |
| nssv15146372 | Submitted genomic | NC_000003.11:g.(?_ 105526)_(19552092_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 105,526 | 19,552,092 |
| nssv15146372 | Submitted genomic | NC_000003.10:g.(?_ 80526)_(19527096_? )dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 80,526 | 19,527,096 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146372 | GRCh37: NC_000003.11:g.(?_105526)_(19552092_?)dup, GRCh38: NC_000003.12:g.(?_63843)_(19510600_?)dup, NCBI36: NC_000003.10:g.(?_80526)_(19527096_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051719.7, VCV000057977.1 | 3 |