A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13506



Internal ID15482859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70771157..70791484hg38UCSC Ensembl
Outerchr5:70770807..70791484hg38UCSC Ensembl
Innerchr5:70066984..70087311hg19UCSC Ensembl
Outerchr5:70066634..70087311hg19UCSC Ensembl
Innerchr5:70102740..70123067hg18UCSC Ensembl
Outerchr5:70102390..70123067hg18UCSC Ensembl
Innerchr5:70102740..70123067hg17UCSC Ensembl
Outerchr5:70102390..70123067hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3820678
hg1920678
hg1820678
hg1720678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesGUSBP9, 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)nssv13506
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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