nsv3876307
- 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:49,049,588
- Description:GRCh37/hg19 4p16.3-11(chr4:12440-49064044)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: 147739 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 147603 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876307 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 12,440 | 49,062,027 |
| nsv3876307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 12,440 | 49,064,044 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149137 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240562.2, VCV000253503.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149137 | Remapped | Good | NC_000004.12:g.(?_ 12440)_(49062027_? )dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 12,440 | 49,062,027 |
| nssv15149137 | Submitted genomic | NC_000004.11:g.(?_ 12440)_(49064044_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 12,440 | 49,064,044 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149137 | GRCh37: NC_000004.11:g.(?_12440)_(49064044_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240562.2, VCV000253503.2 | 3 |