A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541411



Internal ID15160701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43169482..43936548hg38UCSC Ensembl
Innerchr8:43024625..43791691hg19UCSC Ensembl
Innerchr8:43143782..43910848hg18UCSC Ensembl
Innerchr8:43143782..43910848hg17UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38767067
hg19767067
hg18767067
hg17767067
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465641
Supporting Variants
SamplesHGDP00650
Known GenesHGSNAT, POTEA
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)nssv541411
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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