A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214694



Internal ID20781734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:812714..856151hg38UCSC Ensembl
chr4:806502..849939hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3843438
hg1943438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6368543
Supporting Variants
Samples
Known GenesCPLX1, GAK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214694
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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