nsv4452524
- 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:8,689,174
- Description:GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 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: 21166 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 21152 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452524 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 57,042,108 | 65,731,281 |
| nsv4452524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 57,076,136 | 65,716,956 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774780 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846379.2, VCV000685671.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774780 | Remapped | Good | NC_000003.12:g.(?_ 57042108)_(6573128 1_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 57,042,108 | 65,731,281 |
| nssv15774780 | Submitted genomic | NC_000003.11:g.(?_ 57076136)_(6571695 6_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 57,076,136 | 65,716,956 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774780 | GRCh37: NC_000003.11:g.(?_57076136)_(65716956_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846379.2, VCV000685671.2 | 1 |