A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15863



Internal ID15492646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71221125..71234442hg38UCSC Ensembl
Outerchr5:71220916..71234583hg38UCSC Ensembl
Innerchr5:70516952..70530269hg19UCSC Ensembl
Outerchr5:70516743..70530410hg19UCSC Ensembl
Innerchr5:70552708..70566025hg18UCSC Ensembl
Outerchr5:70552499..70566166hg18UCSC Ensembl
Innerchr5:70552708..70566025hg17UCSC Ensembl
Outerchr5:70552499..70566166hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813668
hg1913668
hg1813668
hg1713668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGUSBP9
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)nssv15863
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer