nsv7094831
- 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:171,545
- Description:NC_000016.9:g.(?_27561492)_(27733036_?)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: 424 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7094831 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 27,550,171 | 27,721,715 |
nsv7094831 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 27,561,492 | 27,733,036 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18786690 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003119535.2, VCV002426097.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18786690 | Remapped | Perfect | NC_000016.10:g.(?_ 27550171)_(2772171 5_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 27,550,171 | 27,721,715 |
nssv18786690 | Submitted genomic | NC_000016.9:g.(?_2 7561492)_(27733036 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 27,561,492 | 27,733,036 |
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 |
---|---|---|---|---|---|---|---|
nssv18786690 | GRCh37: NC_000016.9:g.(?_27561492)_(27733036_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003119535.2, VCV002426097.2 |