nsv4729599
- 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:4,332,755
- Description:GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)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: 11278 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 11280 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729599 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 60,943,138 | 65,275,892 |
| nsv4729599 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 61,409,856 | 65,742,610 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255563 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001259780.1, VCV000980604.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255563 | Remapped | Perfect | NC_000014.9:g.(?_6 0943138)_(65275892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 60,943,138 | 65,275,892 |
| nssv16255563 | Submitted genomic | NC_000014.8:g.(?_6 1409856)_(65742610 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 61,409,856 | 65,742,610 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255563 | GRCh37: NC_000014.8:g.(?_61409856)_(65742610_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001259780.1, VCV000980604.1 | 3 |