A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555450



Internal ID16342859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77120965..77162574hg38UCSC Ensembl
Innerchr11:76832011..76873620hg19UCSC Ensembl
Innerchr11:76509659..76551268hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3841610
hg1941610
hg1841610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv779224
Samples
Known GenesCAPN5, MYO7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555450
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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