A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13692736



Internal ID21214587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26601644..26601644hg38UCSC Ensembl
chr22:26997608..26997608hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804391
Supporting Variants
Samples
Known GenesCRYBB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13692736
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.125


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