A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575875



Internal ID16363284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:65792075..65899953hg38UCSC Ensembl
Innerchr17:63788193..63896071hg19UCSC Ensembl
Innerchr17:61218655..61326533hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38107879
hg19107879
hg18107879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149783
SamplesNINDS_147
Known GenesCEP112
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575875
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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