A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6394729



Internal ID21052282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56424227..56458785hg38UCSC Ensembl
chr4:57290393..57324951hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3834559
hg1934559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212537
Samples
Known GenesPAICS, PPAT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6394729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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