A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475974



Internal ID21133527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49682992..49683618hg38UCSC Ensembl
chr14:50149710..50150336hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181403
Samples
Known GenesPOLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475974
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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