A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005455



Internal ID18747986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161538989..161682500hg38UCSC Ensembl
Innerchr1:161508779..161652290hg19UCSC Ensembl
Innerchr1:159775403..159918914hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38143512
hg19143512
hg18143512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3489207, nssv3498052, nssv3489019, nssv3502520
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)nsv1005455
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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