nsv5380979
- 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:71
- Description:NC_000015.9:g.(?_78423487)_(78423557_?)dup 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: 107 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5380979 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 78,131,145 | 78,131,215 |
nsv5380979 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 78,423,487 | 78,423,557 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16867144 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001339209.4, VCV001036231.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16867144 | Remapped | Perfect | NC_000015.10:g.(?_ 78131145)_(7813121 5_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 78,131,145 | 78,131,215 |
nssv16867144 | Submitted genomic | NC_000015.9:g.(?_7 8423487)_(78423557 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 78,423,487 | 78,423,557 |
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 |
---|---|---|---|---|---|---|---|
nssv16867144 | GRCh37: NC_000015.9:g.(?_78423487)_(78423557_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001339209.4, VCV001036231.4 |