A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13949



Internal ID15496617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71007272..71093836hg38UCSC Ensembl
Outerchr5:71006947..71096106hg38UCSC Ensembl
Innerchr5:70303099..70389663hg19UCSC Ensembl
Outerchr5:70302774..70391933hg19UCSC Ensembl
Innerchr5:70338855..70425419hg18UCSC Ensembl
Outerchr5:70338530..70427689hg18UCSC Ensembl
Innerchr5:70338855..70425419hg17UCSC Ensembl
Outerchr5:70338530..70427689hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3889160
hg1989160
hg1889160
hg1789160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19173
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
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)nssv13949
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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