A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469847



Internal ID15187876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7001798..7166714hg38UCSC Ensembl
Innerchr4:7003525..7168441hg19UCSC Ensembl
Innerchr4:7054426..7219342hg18UCSC Ensembl
Innerchr4:7068067..7232983hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38164917
hg19164917
hg18164917
hg16164917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675897
Samples
Known GenesCCDC96, FLJ36777, GRPEL1, LOC100129931, TADA2B, TBC1D14
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469847
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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