A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12928



Internal ID15842792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185520609..185522746hg38UCSC Ensembl
Outerchr4:185520117..185523367hg38UCSC Ensembl
Innerchr4:186441763..186443900hg19UCSC Ensembl
Outerchr4:186441271..186444521hg19UCSC Ensembl
Innerchr4:186678757..186680894hg18UCSC Ensembl
Outerchr4:186678265..186681515hg18UCSC Ensembl
Innerchr4:186816912..186819049hg17UCSC 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
SamplesNA19144
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)nssv12928
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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