A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3483447



Internal ID18724402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161548149..161678819hg38UCSC Ensembl
Innerchr1:161517939..161648609hg19UCSC Ensembl
Innerchr1:159784563..159915233hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38130671
hg19130671
hg18130671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002157
Supporting Variants
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3483447
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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