A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512473



Internal ID15851898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3867518..3869978hg38UCSC Ensembl
Outerchr17:3770812..3773272hg19UCSC Ensembl
Outerchr17:3717561..3720021hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382461
hg192461
hg182461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625071
Samples1
Known GenesCAMKK1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512473
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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