A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6393016



Internal ID21050569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53048788..53050923hg38UCSC Ensembl
chr4:53914955..53917090hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211911
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6393016
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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