A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069547



Internal ID18969113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2444469..2445270hg38UCSC Ensembl
chr11:2465699..2466500hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770074
SamplesKWP1
Known GenesKCNQ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069547
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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