A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519584



Internal ID15100191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95037319..95040676hg38UCSC Ensembl
Innerchr12:95431095..95434452hg19UCSC Ensembl
Innerchr12:93955226..93958583hg18UCSC Ensembl
Innerchr12:93933563..93936920hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
hg173358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676105, nssv658762, nssv660326, nssv656966
Samples
Known GenesNR2C1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519584
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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