A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555204



Internal ID15995927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64793728..64806728hg38UCSC Ensembl
Innerchr11:64561200..64574200hg19UCSC Ensembl
Innerchr11:64317776..64330776hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3813001
hg1913001
hg1813001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1968n54
Supporting Variantsnssv777168
Samples
Known GenesMAP4K2, MEN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555204
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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