A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000058



Internal ID19089275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161668711hg38UCSC Ensembl
Innerchr1:161496900..161638501hg19UCSC Ensembl
Innerchr1:159763524..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38141602
hg19141602
hg18141602
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3502017, nssv3484105, nssv3495041, nssv3490608, nssv3704763, nssv3495036, nssv3501243, nssv3499782, nssv3704761, nssv3492421, nssv3483571, nssv3501576, nssv3484098, nssv3482857, nssv3494237, nssv3485177, nssv3495748, nssv3704759, nssv3487502, nssv3704770, nssv3704768, nssv3494334, nssv3488075, nssv3487665, nssv3501191, nssv3489058, nssv3485053, nssv3704762, nssv3704757, nssv3704752, nssv3497036, nssv3494935, nssv3704753, nssv3488477, nssv3704765, nssv3704760, nssv3485370, nssv3490706, nssv3704766, nssv3704756, nssv3488175, nssv3502666, nssv3488866, nssv3497511, nssv3486682, nssv3704755, nssv3500559, nssv3486274, nssv3492906, nssv3704758, nssv3493837, nssv3498835, nssv3492051, nssv3499596, nssv3492214, nssv3494748, nssv3487162, nssv3704769, nssv3495380, nssv3704767, nssv3704764, nssv3495211, nssv3492561, nssv3492398, nssv3489259, nssv3704754, nssv3493203, nssv3490872
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)nsv1000058
Frequency
Sample Size11257
Observed Gain61
Observed Loss7
Observed Complex0
Frequencyn/a


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