A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15683



Internal ID15492640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70487068..70530483hg38UCSC Ensembl
Outerchr5:70484777..70530625hg38UCSC Ensembl
Innerchr5:69782895..69826310hg19UCSC Ensembl
Outerchr5:69780604..69826452hg19UCSC Ensembl
Innerchr5:69818651..69862066hg18UCSC Ensembl
Outerchr5:69816360..69862208hg18UCSC Ensembl
Innerchr5:69818651..69862066hg17UCSC Ensembl
Outerchr5:69816360..69862208hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3845849
hg1945849
hg1845849
hg1745849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGUSBP9, LOC441081, SMA4, SMA5
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)nssv15683
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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