A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14622



Internal ID15485977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70298649..70478375hg38UCSC Ensembl
Outerchr5:70298052..70480458hg38UCSC Ensembl
Innerchr5:69594476..69774202hg19UCSC Ensembl
Outerchr5:69593879..69776285hg19UCSC Ensembl
Innerchr5:69630232..69809958hg18UCSC Ensembl
Outerchr5:69629635..69812041hg18UCSC Ensembl
Innerchr5:69630232..69809958hg17UCSC Ensembl
Outerchr5:69629635..69812041hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38182407
hg19182407
hg18182407
hg17182407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18502
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)nssv14622
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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