A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553116



Internal ID15993839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2864498..2899436hg38UCSC Ensembl
Innerchr11:2885728..2920666hg19UCSC Ensembl
Innerchr11:2842304..2877242hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3834939
hg1934939
hg1834939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1575n54
Supporting Variantsnssv764545
Samples
Known GenesCDKN1C, KCNQ1DN, SLC22A18AS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553116
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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