A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575891



Internal ID16363300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66102427..66208473hg38UCSC Ensembl
Innerchr17:64098545..64204591hg19UCSC Ensembl
Innerchr17:61529007..61635053hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38106047
hg19106047
hg18106047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5749n54
Supporting Variantsnssv875837
Samples
Known GenesCEP112
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575891
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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