A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185939



Internal ID20752979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132758333..132766122hg38UCSC Ensembl
chr12:133334919..133342708hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg387790
hg197790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488118
Supporting Variants
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185939
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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