A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523865



Internal ID20897226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57553862..57888736hg38UCSC Ensembl
chr18:55221094..55555968hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38334875
hg19334875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194743
Samples
Known GenesATP8B1, FECH, LOC100505549, NARS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523865
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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