A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538568



Internal ID15511046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85913831..85991651hg38UCSC Ensembl
Innerchr1:86379514..86457334hg19UCSC Ensembl
Innerchr1:86152102..86229922hg18UCSC Ensembl
Innerchr1:86091535..86169355hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3877821
hg1977821
hg1877821
hg1777821
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462395
Supporting Variants
SamplesHGDP01345
Known GenesCOL24A1
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)nssv538568
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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