A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001018



Internal ID18743549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161660140hg38UCSC Ensembl
Innerchr1:161513759..161629930hg19UCSC Ensembl
Innerchr1:159780383..159896554hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38116172
hg19116172
hg18116172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n100
Supporting Variantsnssv3486096
Samples
Known GenesFCGR2C, 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)nsv1001018
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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