A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553589



Internal ID15994312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17723445..17788177hg38UCSC Ensembl
Innerchr11:17744992..17809724hg19UCSC Ensembl
Innerchr11:17701568..17766300hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3864733
hg1964733
hg1864733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv768330
Samples
Known GenesKCNC1, SERGEF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553589
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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