A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15503



Internal ID15492634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69554372..69607501hg38UCSC Ensembl
Outerchr5:69553795..69607969hg38UCSC Ensembl
Innerchr5:68850199..68903328hg19UCSC Ensembl
Outerchr5:68849622..68903796hg19UCSC Ensembl
Innerchr5:68885955..68939084hg18UCSC Ensembl
Outerchr5:68885378..68939552hg18UCSC Ensembl
Innerchr5:68885955..68939084hg17UCSC Ensembl
Outerchr5:68885378..68939552hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854175
hg1954175
hg1854175
hg1754175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, 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)nssv15503
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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