A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12996



Internal ID15482583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69531811..69629138hg38UCSC Ensembl
Outerchr5:69531125..69631429hg38UCSC Ensembl
Innerchr5:68827638..68924965hg19UCSC Ensembl
Outerchr5:68826952..68927256hg19UCSC Ensembl
Innerchr5:68863394..68960721hg18UCSC Ensembl
Outerchr5:68862708..68963012hg18UCSC Ensembl
Innerchr5:68863394..68960721hg17UCSC Ensembl
Outerchr5:68862708..68963012hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38100305
hg19100305
hg18100305
hg17100305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC100272216, LOC647859, OCLN, 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)nssv12996
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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