nsv6314720
- 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:43,205
- Description:NC_000017.10:g.(?_411907)_(440417_455111)dup 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: 487 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 70 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 508,667 | 537,177 | 551,871 |
| nsv6314720 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017363817.1 | Chr17|NW_0 17363817.1 | 68,144 | 96,654 | 111,348 |
| nsv6314720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 411,907 | 440,417 | 455,111 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976096 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002222866.1, VCV001677008.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976096 | Remapped | Perfect | NW_017363817.1:g.( ?_68144)_(96654_11 1348)dup | GRCh38.p12 | Second Pass | NW_017363817.1 | Chr17|NW_0 17363817.1 | 68,144 | 96,654 | 111,348 |
| nssv17976096 | Remapped | Perfect | NC_000017.11:g.(?_ 508667)_(537177_55 1871)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 508,667 | 537,177 | 551,871 |
| nssv17976096 | Submitted genomic | NC_000017.10:g.(?_ 411907)_(440417_45 5111)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 411,907 | 440,417 | 455,111 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976096 | GRCh37: NC_000017.10:g.(?_411907)_(440417_455111)dup | duplication | germline | not specified | Uncertain significance | ClinVar | RCV002222866.1, VCV001677008.1 |