A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555452



Internal ID15996175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77590296..77709269hg38UCSC Ensembl
Innerchr11:77301341..77420314hg19UCSC Ensembl
Innerchr11:76978989..77097962hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38118974
hg19118974
hg18118974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174834
Samples1780862469_A
Known GenesAQP11, CLNS1A, RSF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555452
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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