A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6392153



Internal ID21049706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47199178..47477107hg38UCSC Ensembl
chr4:47201195..47479124hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38277930
hg19277930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214309
Samples
Known GenesCOMMD8, GABRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6392153
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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