nsv6112718
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:143,878
- Description:Single allele 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: 548 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 61 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6112718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 32,963,226 | 33,107,103 | ||
nsv6112718 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 32,984,772 | 33,128,649 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17649997 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001542310.1, VCV001184314.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17649997 | Submitted genomic | NC_000011.10:g.329 63226_33107103dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 32,963,226 | 33,107,103 | ||
nssv17649997 | Remapped | Perfect | NC_000011.9:g.3298 4772_33128649dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 32,984,772 | 33,128,649 |
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 |
---|---|---|---|---|---|---|---|
nssv17649997 | GRCh38: NC_000011.10:g.32963226_33107103dup | duplication | inherited | not provided | Uncertain significance | ClinVar | RCV001542310.1, VCV001184314.1 |