A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526482



Internal ID22395862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154713955..154714570hg38UCSC Ensembl
chr1:154686431..154687046hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287453, nssv14287454
SamplesNA19239, NA19240
Known GenesKCNN3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526482
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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