A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23734



Internal ID15843617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47349045..47353326hg38UCSC Ensembl
Outerchr10:47348300..47354168hg38UCSC Ensembl
Innerchr10:48386036..48390317hg19UCSC Ensembl
Outerchr10:48385194..48391062hg19UCSC Ensembl
Innerchr10:48006042..48010323hg18UCSC Ensembl
Outerchr10:48005200..48011068hg18UCSC Ensembl
Innerchr10:48006042..48010323hg17UCSC Ensembl
Outerchr10:48005200..48011068hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg385869
hg195869
hg185869
hg175869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19221
Known GenesRBP3
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)nssv23734
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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