nsv4349747
- 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:2,328,678
- Description:GRCh37/hg19 14q24.3(chr14:74040231-76368547) 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: 7084 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 7075 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349747 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,573,527 | 75,902,204 |
| nsv4349747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,040,231 | 76,368,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605786 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000767572.1, VCV000625564.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605786 | Remapped | Good | NC_000014.9:g.(?_7 3573527)_(75902204 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,573,527 | 75,902,204 |
| nssv15605786 | Submitted genomic | NC_000014.8:g.(?_7 4040231)_(76368547 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,040,231 | 76,368,547 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605786 | GRCh37: NC_000014.8:g.(?_74040231)_(76368547_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000767572.1, VCV000625564.1 |