A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010555



Internal ID19099772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161527110..161668399hg38UCSC Ensembl
Innerchr1:161496900..161638189hg19UCSC Ensembl
Innerchr1:159763524..159904813hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38141290
hg19141290
hg18141290
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv449n100
Supporting Variantsnssv3498833, nssv3488709, nssv3499325, nssv3488838, nssv3482924
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)nsv1010555
Frequency
Sample Size11257
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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