A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213587



Internal ID20780627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39729240..39903379hg38UCSC Ensembl
chr4:39730860..39904999hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38174140
hg19174140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6393578
Supporting Variants
Samples
Known GenesPDS5A, UBE2K
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213587
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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