A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054138



Internal ID19143357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19321836..19422412hg38UCSC Ensembl
Innerchr12:19474770..19575346hg19UCSC Ensembl
Innerchr12:19366037..19466613hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38100577
hg19100577
hg18100577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3515588, nssv3710297, nssv3710298
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054138
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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