A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518232



Internal ID15098839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111304181..111341391hg38UCSC Ensembl
Innerchr1:111846803..111884013hg19UCSC Ensembl
Innerchr1:111648326..111685536hg18UCSC Ensembl
Innerchr1:111558845..111596055hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3837211
hg1937211
hg1837211
hg1737211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695661
Samples
Known GenesCHIA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518232
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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