A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457930



Internal ID15517995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54846291..54863892hg38UCSC Ensembl
Innerchr2:55073428..55091029hg19UCSC Ensembl
Innerchr2:54926932..54944533hg18UCSC Ensembl
Innerchr2:54985079..55002680hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3817602
hg1917602
hg1817602
hg1717602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535020
Samples1780862410_A
Known GenesEML6
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)nsv457930
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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