A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998428



Internal ID18811278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161686696hg38UCSC Ensembl
Innerchr1:161496900..161656486hg19UCSC Ensembl
Innerchr1:159763524..159923110hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38159587
hg19159587
hg18159587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3487066, nssv3484478
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)nsv998428
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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