A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002020



Internal ID19091237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161667408hg38UCSC Ensembl
Innerchr1:161496900..161637198hg19UCSC Ensembl
Innerchr1:159763524..159903822hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38140299
hg19140299
hg18140299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3485712, nssv3495911
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)nsv1002020
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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