A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14161



Internal ID15844620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62216232..62254525hg38UCSC Ensembl
Outerchr5:62214608..62256235hg38UCSC Ensembl
Innerchr5:61512059..61550352hg19UCSC Ensembl
Outerchr5:61510435..61552062hg19UCSC Ensembl
Innerchr5:61547816..61586109hg18UCSC Ensembl
Outerchr5:61546192..61587819hg18UCSC Ensembl
Innerchr5:61547816..61586109hg17UCSC Ensembl
Outerchr5:61546192..61587819hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3841628
hg1941628
hg1841628
hg1741628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10702
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14161
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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