A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520635



Internal ID15447928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44313884..44327091hg38UCSC Ensembl
Innerchr12:44707667..44720874hg19UCSC Ensembl
Innerchr12:42993934..43007141hg18UCSC Ensembl
Innerchr12:42993934..43007141hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3813208
hg1913208
hg1813208
hg1713208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697530
Samples
Known GenesTMEM117
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520635
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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