A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17032576



Internal ID89402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18536554..18536666hg38UCSC Ensembl
chr10:18825483..18825595hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486282
Supporting Variants
Samples
Known GenesCACNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17032576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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