A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009245



Internal ID19098463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161682500hg38UCSC Ensembl
Innerchr1:161513759..161652290hg19UCSC Ensembl
Innerchr1:159780383..159918914hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38138532
hg19138532
hg18138532
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3486110, nssv3488258, nssv3493383, nssv3500009, nssv3490667
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)nsv1009245
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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