A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519752



Internal ID15100359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27478447..27481277hg38UCSC Ensembl
Innerchr12:27631380..27634210hg19UCSC Ensembl
Innerchr12:27522647..27525477hg18UCSC Ensembl
Innerchr12:27522647..27525477hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg382831
hg192831
hg182831
hg172831
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690095, nssv658144, nssv701781, nssv678964, nssv692776
Samples
Known GenesSMCO2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519752
Frequency
Sample Size2026
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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