A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15081



Internal ID15491462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409763..70471771hg38UCSC Ensembl
Outerchr5:70409347..70472354hg38UCSC Ensembl
Innerchr5:69705590..69767598hg19UCSC Ensembl
Outerchr5:69705174..69768181hg19UCSC Ensembl
Innerchr5:69741346..69803354hg18UCSC Ensembl
Outerchr5:69740930..69803937hg18UCSC Ensembl
Innerchr5:69741346..69803354hg17UCSC Ensembl
Outerchr5:69740930..69803937hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3863008
hg1963008
hg1863008
hg1763008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18860
Known GenesGTF2H2B, 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)nssv15081
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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