A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553111



Internal ID15993834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2842057..2904391hg38UCSC Ensembl
Innerchr11:2863287..2925621hg19UCSC Ensembl
Innerchr11:2819863..2882197hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3862335
hg1962335
hg1862335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv764541
Samples
Known GenesCDKN1C, KCNQ1, KCNQ1DN, SLC22A18, SLC22A18AS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553111
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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