nsv7094908
- 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:18,068
- Description:NC_000017.10:g.(?_57076738)_(57094805_?)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: 172 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 36 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7094908 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 58,999,377 | 59,017,444 |
nsv7094908 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 57,076,738 | 57,094,805 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18786723 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003119568.1, VCV002426130.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18786723 | Remapped | Perfect | NC_000017.11:g.(?_ 58999377)_(5901744 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 58,999,377 | 59,017,444 |
nssv18786723 | Submitted genomic | NC_000017.10:g.(?_ 57076738)_(5709480 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 57,076,738 | 57,094,805 |
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 |
---|---|---|---|---|---|---|---|
nssv18786723 | GRCh37: NC_000017.10:g.(?_57076738)_(57094805_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003119568.1, VCV002426130.2 |