A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12642



Internal ID15486448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:674292..690054hg38UCSC Ensembl
Outerchr4:673415..690512hg38UCSC Ensembl
Innerchr4:668081..683843hg19UCSC Ensembl
Outerchr4:667204..684301hg19UCSC Ensembl
Innerchr4:658081..673843hg18UCSC Ensembl
Outerchr4:657204..674301hg18UCSC Ensembl
Innerchr4:658081..673843hg17UCSC Ensembl
Outerchr4:657204..674301hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3817098
hg1917098
hg1817098
hg1717098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10413
Supporting Variants
SamplesNA18502
Known GenesATP5I, MFSD7, MYL5
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)nssv12642
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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