A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555443



Internal ID15996166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74398121..74469444hg38UCSC Ensembl
Innerchr11:74109166..74180489hg19UCSC Ensembl
Innerchr11:73786814..73858137hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3871324
hg1971324
hg1871324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv779218
Samples
Known GenesKCNE3, PGM2L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555443
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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