A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001205



Internal ID18743736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161678435hg38UCSC Ensembl
Innerchr1:161496900..161648225hg19UCSC Ensembl
Innerchr1:159763524..159914849hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38151326
hg19151326
hg18151326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3484399
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)nsv1001205
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer