A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004462



Internal ID18746993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161700539hg38UCSC Ensembl
Innerchr1:161496900..161670329hg19UCSC Ensembl
Innerchr1:159763524..159936953hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38173430
hg19173430
hg18173430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3488409
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)nsv1004462
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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