A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201



Internal ID15491534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71015386..71099512hg38UCSC Ensembl
Outerchr5:71014491..71101166hg38UCSC Ensembl
Innerchr5:70311213..70395339hg19UCSC Ensembl
Outerchr5:70310318..70396993hg19UCSC Ensembl
Innerchr5:70346969..70431095hg18UCSC Ensembl
Outerchr5:70346074..70432749hg18UCSC Ensembl
Innerchr5:70346969..70431095hg17UCSC Ensembl
Outerchr5:70346074..70432749hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3886676
hg1986676
hg1886676
hg1786676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18860
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)nssv15201
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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