A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054815



Internal ID19144034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23096175..23161375hg38UCSC Ensembl
Innerchr12:23249109..23314309hg19UCSC Ensembl
Innerchr12:23140376..23205576hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3865201
hg1965201
hg1865201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521328
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054815
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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