A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047421



Internal ID19136640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19332423..19432212hg38UCSC Ensembl
Innerchr12:19485357..19585146hg19UCSC Ensembl
Innerchr12:19376624..19476413hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3899790
hg1999790
hg1899790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3518594
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)nsv1047421
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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