A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6408165



Internal ID21065718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83400846..84501962hg38UCSC Ensembl
chr5:82696665..83797780hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg381101117
hg191101116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214252
Samples
Known GenesEDIL3, HAPLN1, VCAN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6408165
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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