nsv4684265
- 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:10,516,504
- Description:GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 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: 48291 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 45957 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684265 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 96,362,953 | 106,879,456 |
| nsv4684265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 96,829,290 | 107,287,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215328 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001195078.1, VCV000929832.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215328 | Remapped | Good | NC_000014.9:g.(?_9 6362953)_(10687945 6_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 96,362,953 | 106,879,456 |
| nssv16215328 | Submitted genomic | NC_000014.8:g.(?_9 6829290)_(10728766 3_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 96,829,290 | 107,287,663 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215328 | GRCh37: NC_000014.8:g.(?_96829290)_(107287663_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001195078.1, VCV000929832.1 | 1 |