A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336417



Internal ID20993970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224578401..224584400hg38UCSC Ensembl
chr2:225443118..225449117hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206269
Samples
Known GenesCUL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336417
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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