A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518504



Internal ID15445797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77099706..77945660hg38UCSC Ensembl
Innerchr2:77326832..78172786hg19UCSC Ensembl
Innerchr2:77180340..78026294hg18UCSC Ensembl
Innerchr2:77238487..78084441hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38845955
hg19845955
hg18845955
hg17845955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695945
Samples
Known GenesLRRTM4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518504
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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