A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15224



Internal ID15487504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534193..69667348hg38UCSC Ensembl
Outerchr5:69533187..69667476hg38UCSC Ensembl
Innerchr5:68830020..68963175hg19UCSC Ensembl
Outerchr5:68829014..68963303hg19UCSC Ensembl
Innerchr5:68865776..68998931hg18UCSC Ensembl
Outerchr5:68864770..68999059hg18UCSC Ensembl
Innerchr5:68865776..68998931hg17UCSC Ensembl
Outerchr5:68864770..68999059hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38134290
hg19134290
hg18134290
hg17134290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18517
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, 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)nssv15224
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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