A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999723



Internal ID18812573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161667183hg38UCSC Ensembl
Innerchr1:161513759..161636973hg19UCSC Ensembl
Innerchr1:159780383..159903597hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38123215
hg19123215
hg18123215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n100
Supporting Variantsnssv3496688, nssv3499602
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)nsv999723
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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