A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13411



Internal ID15844708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185520609..185522004hg38UCSC Ensembl
Outerchr4:185520117..185523367hg38UCSC Ensembl
Innerchr4:186441763..186443158hg19UCSC Ensembl
Outerchr4:186441271..186444521hg19UCSC Ensembl
Innerchr4:186678757..186680152hg18UCSC Ensembl
Outerchr4:186678265..186681515hg18UCSC Ensembl
Innerchr4:186816912..186818307hg17UCSC Ensembl
Outerchr4:186816420..186819670hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383251
hg193251
hg183251
hg173251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10624
Supporting Variants
SamplesNA19240
Known GenesPDLIM3
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)nssv13411
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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