A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001211



Internal ID18743742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161532055..161648747hg38UCSC Ensembl
Innerchr1:161501845..161618537hg19UCSC Ensembl
Innerchr1:159768469..159885161hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38116693
hg19116693
hg18116693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n100
Supporting Variantsnssv3484406
Samples
Known GenesFCGR2C, 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)nsv1001211
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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