A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24611



Internal ID15837459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10310822..10317888hg38UCSC Ensembl
Outerchr1:10308912..10318788hg38UCSC Ensembl
Innerchr1:10370880..10377946hg19UCSC Ensembl
Outerchr1:10368970..10378846hg19UCSC Ensembl
Innerchr1:10293467..10300533hg18UCSC Ensembl
Outerchr1:10291557..10301433hg18UCSC Ensembl
Innerchr1:10305146..10312212hg17UCSC 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 StatusS
Merged Variantsnsv8102
Supporting Variants
SamplesNA18853
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)nssv24611
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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