A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8749



Internal ID15846661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133110796..133114710hg38UCSC Ensembl
Outerchr10:134924300..134928214hg19UCSC Ensembl
Outerchr10:134774290..134778204hg18UCSC Ensembl
Outerchr10:134813181..134817095hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383915
hg193915
hg183915
hg173915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22214, nssv19460, nssv19563, nssv19336
SamplesNA07048, NA18853, NA18517, NA18552
Known GenesGPR123
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)nsv8749
Frequency
Sample Size31
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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