A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183805



Internal ID20750845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121923346..121924710hg38UCSC Ensembl
chr12:122361252..122362616hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486999
Supporting Variants
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183805
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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