A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13548



Internal ID15489677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70411287..70484777hg38UCSC Ensembl
Outerchr5:70410056..70487068hg38UCSC Ensembl
Innerchr5:69707114..69780604hg19UCSC Ensembl
Outerchr5:69705883..69782895hg19UCSC Ensembl
Innerchr5:69742870..69816360hg18UCSC Ensembl
Outerchr5:69741639..69818651hg18UCSC Ensembl
Innerchr5:69742870..69816360hg17UCSC Ensembl
Outerchr5:69741639..69818651hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3877013
hg1977013
hg1877013
hg1777013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18564
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, 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)nssv13548
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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