A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212537



Internal ID20779577
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 StatusS
Merged Variantsnsv6394729
Supporting Variants
Samples
Known GenesPAICS, PPAT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212537
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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