A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13869



Internal ID15484417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534047..69618175hg38UCSC Ensembl
Outerchr5:69533187..69618596hg38UCSC Ensembl
Innerchr5:68829874..68914002hg19UCSC Ensembl
Outerchr5:68829014..68914423hg19UCSC Ensembl
Innerchr5:68865630..68949758hg18UCSC Ensembl
Outerchr5:68864770..68950179hg18UCSC Ensembl
Innerchr5:68865630..68949758hg17UCSC Ensembl
Outerchr5:68864770..68950179hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3885410
hg1985410
hg1885410
hg1785410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
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)nssv13869
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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