A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005372



Internal ID19094589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161623061..161680819hg38UCSC Ensembl
Innerchr1:161592851..161650609hg19UCSC Ensembl
Innerchr1:159859475..159917233hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3857759
hg1957759
hg1857759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv453n100
Supporting Variantsnssv3499656, nssv3494262, nssv3704800, nssv3500539
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)nsv1005372
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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