A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8614



Internal ID15499840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27215558..27539477hg38UCSC Ensembl
Outerchr10:27504487..27828406hg19UCSC Ensembl
Outerchr10:27544493..27868412hg18UCSC Ensembl
Outerchr10:27544493..27868412hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38323920
hg19323920
hg18323920
hg17323920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20713
SamplesNA18504
Known GenesACBD5, LRRC37A6P, PTCHD3, RAB18
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)nsv8614
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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