A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457985



Internal ID15171364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57206977..58550034hg38UCSC Ensembl
Innerchr2:57434112..58777169hg19UCSC Ensembl
Innerchr2:57287616..58630673hg18UCSC Ensembl
Innerchr2:57345763..58688820hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381343058
hg191343058
hg181343058
hg171343058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535065
SamplesHGDP00817
Known GenesFANCL, LINC01122, VRK2
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)nsv457985
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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