A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19569



Internal ID15484337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:61952408..62552998hg38UCSC Ensembl
Outerchr10:61896798..62671529hg38UCSC Ensembl
Innerchr10:63712167..64312757hg19UCSC Ensembl
Outerchr10:63656557..64431289hg19UCSC Ensembl
Innerchr10:63382173..63982763hg18UCSC Ensembl
Outerchr10:63326563..64101295hg18UCSC Ensembl
Innerchr10:63382173..63982763hg17UCSC Ensembl
Outerchr10:63326563..64101295hg17UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38774732
hg19774733
hg18774733
hg17774733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8681
Supporting Variants
SamplesNA12740
Known GenesARID5B, LOC283045, MIR548AV, RTKN2, ZNF365
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)nssv19569
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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