A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15653



Internal ID15492639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70281160..70475652hg38UCSC Ensembl
Outerchr5:70281065..70476275hg38UCSC Ensembl
Innerchr5:69576987..69771479hg19UCSC Ensembl
Outerchr5:69576892..69772102hg19UCSC Ensembl
Innerchr5:69612743..69807235hg18UCSC Ensembl
Outerchr5:69612648..69807858hg18UCSC Ensembl
Innerchr5:69612743..69807235hg17UCSC Ensembl
Outerchr5:69612648..69807858hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38195211
hg19195211
hg18195211
hg17195211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, 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)nssv15653
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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