A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007678



Internal ID19096897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161623061..161682500hg38UCSC Ensembl
Innerchr1:161592851..161652290hg19UCSC Ensembl
Innerchr1:159859475..159918914hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3859440
hg1959440
hg1859440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv453n100
Supporting Variantsnssv3493688
Samples
Known GenesFCGR2B, FCGR3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007678
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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