A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005425



Internal ID18747956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161690238hg38UCSC Ensembl
Innerchr1:161513759..161660028hg19UCSC Ensembl
Innerchr1:159780383..159926652hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38146270
hg19146270
hg18146270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3490643
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7, RPL31P11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005425
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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