nsv6313864
- 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:20,007,237
- Description:GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 53717 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 53720 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313864 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 26,382,001 | 46,389,237 |
| nsv6313864 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 26,382,110 | 46,389,339 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970013 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053485.3, VCV001527153.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970013 | Remapped | Perfect | NC_000005.10:g.(?_ 26382001)_(4638923 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 26,382,001 | 46,389,237 |
| nssv17970013 | Submitted genomic | NC_000005.9:g.(?_2 6382110)_(46389339 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 26,382,110 | 46,389,339 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970013 | GRCh37: NC_000005.9:g.(?_26382110)_(46389339_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053485.3, VCV001527153.3 |