A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004441



Internal ID19093659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161667408hg38UCSC Ensembl
Innerchr1:161513759..161637198hg19UCSC Ensembl
Innerchr1:159780383..159903822hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38123440
hg19123440
hg18123440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv448n100
Supporting Variantsnssv3704775
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)nsv1004441
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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