A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014053



Internal ID18756585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161538989..161680819hg38UCSC Ensembl
Innerchr1:161508779..161650609hg19UCSC Ensembl
Innerchr1:159775403..159917233hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38141831
hg19141831
hg18141831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3501895, nssv3501742
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)nsv1014053
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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