A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527536



Internal ID15454829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130829669..130845628hg38UCSC Ensembl
Innerchr12:131314214..131330173hg19UCSC Ensembl
Innerchr12:129880167..129896126hg18UCSC Ensembl
Innerchr12:129839094..129855053hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3815960
hg1915960
hg1815960
hg1715960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703996
Samples
Known GenesSTX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527536
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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