A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705218



Internal ID15441870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73649843..73653628hg38UCSC Ensembl
Innerchr11:73360888..73364673hg19UCSC Ensembl
Innerchr11:73038536..73042321hg18UCSC Ensembl
Innerchr11:73038536..73042321hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383786
hg193786
hg183786
hg173786
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528592
Supporting Variants
Samples
Known GenesPLEKHB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705218
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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