A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005277



Internal ID18747808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161508734..161668711hg38UCSC Ensembl
Innerchr1:161478524..161638501hg19UCSC Ensembl
Innerchr1:159745148..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38159978
hg19159978
hg18159978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n100
Supporting Variantsnssv3493918, nssv3491312, nssv3497765
Samples
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005277
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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