A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000353



Internal ID19089570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161548149..161660140hg38UCSC Ensembl
Innerchr1:161517939..161629930hg19UCSC Ensembl
Innerchr1:159784563..159896554hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38111992
hg19111992
hg18111992
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3493251, nssv3485022, nssv3704782
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)nsv1000353
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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