A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6380427



Internal ID21037980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139467356..139471185hg38UCSC Ensembl
chr4:140388510..140392339hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg383830
hg193830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213041
Samples
Known GenesRAB33B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6380427
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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