A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529431



Internal ID22398823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2793406..2793477hg38UCSC Ensembl
chr11:2814636..2814707hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357282, nssv14357283
SamplesNA19239, NA19240
Known GenesKCNQ1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529431
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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