A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12585



Internal ID15834694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:190022249..190091419hg38UCSC Ensembl
Outerchr4:189879432..190099222hg38UCSC Ensembl
Innerchr4:190943404..191012574hg19UCSC Ensembl
Outerchr4:190800587..191020377hg19UCSC Ensembl
Innerchr4:191180398..191246555hg18UCSC Ensembl
Outerchr4:191037581..191254358hg18UCSC Ensembl
Innerchr4:191318553..191384710hg17UCSC Ensembl
Outerchr4:191175736..191392513hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38219791
hg19219791
hg18216778
hg17216778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10641
Supporting Variants
SamplesNA18537
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG1, FRG2, LOC100288255, LOC100653046, LOC283788
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv12585
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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