A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553115



Internal ID15993838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2864498..2891716hg38UCSC Ensembl
Innerchr11:2885728..2912946hg19UCSC Ensembl
Innerchr11:2842304..2869522hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3827219
hg1927219
hg1827219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1575n54
Supporting Variantsnssv1174285
SamplesNINDS_69
Known GenesCDKN1C, KCNQ1DN, SLC22A18AS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553115
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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