A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347962



Internal ID21005515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54690801..54738000hg38UCSC Ensembl
chr2:54917938..54965137hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3847200
hg1947200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209921
Samples
Known GenesEML6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347962
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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