A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523517



Internal ID15104124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27472954..27481277hg38UCSC Ensembl
Innerchr12:27625887..27634210hg19UCSC Ensembl
Innerchr12:27517154..27525477hg18UCSC Ensembl
Innerchr12:27517154..27525477hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg388324
hg198324
hg188324
hg178324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699290
Samples
Known GenesSMCO2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523517
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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