A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466283



Internal ID15179662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12565072..12624831hg38UCSC Ensembl
Innerchr1:12625101..12684837hg19UCSC Ensembl
Innerchr1:12547688..12607424hg18UCSC Ensembl
Innerchr1:12559367..12619103hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3859760
hg1959737
hg1859737
hg1759737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541870
SamplesHGDP00259
Known GenesDHRS3, MIR6730
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)nsv466283
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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