A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13680813



Internal ID21202673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151876666..151876666hg38UCSC Ensembl
chr2:152733180..152733180hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2805769
Supporting Variants
Samples
Known GenesCACNB4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13680813
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.53125


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