A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538073



Internal ID15163179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66269918..66301058hg38UCSC Ensembl
Innerchr1:66735601..66766741hg19UCSC Ensembl
Innerchr1:66508189..66539329hg18UCSC Ensembl
Innerchr1:66447622..66478762hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3831141
hg1931141
hg1831141
hg1731141
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461716
Supporting Variants
SamplesHGDP01099
Known GenesPDE4B
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)nssv538073
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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