A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12610



Internal ID15484929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70772892..70894931hg38UCSC Ensembl
Outerchr5:70771157..70895589hg38UCSC Ensembl
Innerchr5:70068719..70190758hg19UCSC Ensembl
Outerchr5:70066984..70191416hg19UCSC Ensembl
Innerchr5:70104475..70226514hg18UCSC Ensembl
Outerchr5:70102740..70227172hg18UCSC Ensembl
Innerchr5:70104475..70226514hg17UCSC Ensembl
Outerchr5:70102740..70227172hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38124433
hg19124433
hg18124433
hg17124433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12802
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)nssv12610
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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