nsv3884275
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:83,895,037
- Description:GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 210881 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 210874 SVs from 144 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884275 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 95,508,373 | 179,403,409 |
| nsv3884275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 94,844,077 | 178,830,410 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150579 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000487658.3, VCV000425542.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150579 | Remapped | Good | NC_000005.10:g.(?_ 95508373)_(1794034 09_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 95,508,373 | 179,403,409 |
| nssv15150579 | Submitted genomic | NC_000005.9:g.(?_9 4844077)_(17883041 0_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 94,844,077 | 178,830,410 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150579 | GRCh37: NC_000005.9:g.(?_94844077)_(178830410_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV000487658.3, VCV000425542.3 | 3 |