A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523681



Internal ID20897042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5538901..5543000hg38UCSC Ensembl
chr18:5538900..5542999hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181492
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523681
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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