A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541263



Internal ID15163323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12949552..13038271hg38UCSC Ensembl
Innerchr8:12807061..12895780hg19UCSC Ensembl
Innerchr8:12851432..12940151hg18UCSC Ensembl
Innerchr8:12851432..12940151hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3888720
hg1988720
hg1888720
hg1788720
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465469
Supporting Variants
SamplesHGDP01172
Known GenesKIAA1456
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541263
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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