A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14833



Internal ID15486907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69560540..69614890hg38UCSC Ensembl
Outerchr5:69560243..69615215hg38UCSC Ensembl
Innerchr5:68856367..68910717hg19UCSC Ensembl
Outerchr5:68856070..68911042hg19UCSC Ensembl
Innerchr5:68892123..68946473hg18UCSC Ensembl
Outerchr5:68891826..68946798hg18UCSC Ensembl
Innerchr5:68892123..68946473hg17UCSC Ensembl
Outerchr5:68891826..68946798hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854973
hg1954973
hg1854973
hg1754973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18504
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, 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)nssv14833
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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