A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13458



Internal ID15489699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69555597..69629138hg38UCSC Ensembl
Outerchr5:69554909..69631429hg38UCSC Ensembl
Innerchr5:68851424..68924965hg19UCSC Ensembl
Outerchr5:68850736..68927256hg19UCSC Ensembl
Innerchr5:68887180..68960721hg18UCSC Ensembl
Outerchr5:68886492..68963012hg18UCSC Ensembl
Innerchr5:68887180..68960721hg17UCSC Ensembl
Outerchr5:68886492..68963012hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3876521
hg1976521
hg1876521
hg1776521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18564
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC100272216, 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)nssv13458
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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