A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8102



Internal ID15846014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10308912..10318788hg38UCSC Ensembl
Outerchr1:10368970..10378846hg19UCSC Ensembl
Outerchr1:10291557..10301433hg18UCSC Ensembl
Outerchr1:10303236..10313112hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg389877
hg199877
hg189877
hg179877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26900, nssv24611, nssv26885
SamplesNA18502, NA18853, NA19132
Known GenesKIF1B
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)nsv8102
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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