A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556169



Internal ID16343578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103127647..103274441hg38UCSC Ensembl
Innerchr11:102998376..103145170hg19UCSC Ensembl
Innerchr11:102503586..102650380hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38146795
hg19146795
hg18146795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv782099
Samples
Known GenesDYNC2H1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556169
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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