A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13026



Internal ID15482600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69631429..69656158hg38UCSC Ensembl
Outerchr5:69629138..69657910hg38UCSC Ensembl
Innerchr5:68927256..68951985hg19UCSC Ensembl
Outerchr5:68924965..68953737hg19UCSC Ensembl
Innerchr5:68963012..68987741hg18UCSC Ensembl
Outerchr5:68960721..68989493hg18UCSC Ensembl
Innerchr5:68963012..68987741hg17UCSC Ensembl
Outerchr5:68960721..68989493hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3828773
hg1928773
hg1828773
hg1728773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesGUSBP3, LOC100272216, 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)nssv13026
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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