A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6368543



Internal ID21026096
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 StatusM
Merged Variants
Supporting Variantsnssv18214694
Samples
Known GenesCPLX1, GAK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6368543
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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