A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044291



Internal ID19133510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19321836..19427558hg38UCSC Ensembl
Innerchr12:19474770..19580492hg19UCSC Ensembl
Innerchr12:19366037..19471759hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38105723
hg19105723
hg18105723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3508795, nssv3710323, nssv3511225, nssv3710324
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)nsv1044291
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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