A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502921



Internal ID18801202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19321836..19436142hg38UCSC Ensembl
Innerchr12:19474770..19589076hg19UCSC Ensembl
Innerchr12:19366037..19480343hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38114307
hg19114307
hg18114307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036416
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)nssv3502921
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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