A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518108



Internal ID18816389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19338268..19423521hg38UCSC Ensembl
Innerchr12:19491202..19576455hg19UCSC Ensembl
Innerchr12:19382469..19467722hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3885254
hg1985254
hg1885254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055100
Supporting Variants
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)nssv3518108
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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