A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13740



Internal ID15843501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3478246..3564071hg38UCSC Ensembl
Outerchr4:3477763..3564160hg38UCSC Ensembl
Innerchr4:3479973..3565798hg19UCSC Ensembl
Outerchr4:3479490..3565887hg19UCSC Ensembl
Innerchr4:3449771..3535596hg18UCSC Ensembl
Outerchr4:3449288..3535685hg18UCSC Ensembl
Innerchr4:3516942..3602767hg17UCSC Ensembl
Outerchr4:3516459..3602856hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3886398
hg1986398
hg1886398
hg1786398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10426
Supporting Variants
SamplesNA19221
Known GenesDOK7, LRPAP1
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)nssv13740
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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