A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340207



Internal ID20997760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54902464..54923086hg38UCSC Ensembl
chr2:55129601..55150223hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3820623
hg1920623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209927
Samples
Known GenesEML6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340207
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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