A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548071



Internal ID15988794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161599629..161661908hg38UCSC Ensembl
Innerchr1:161569419..161631698hg19UCSC Ensembl
Innerchr1:159836043..159898322hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3862280
hg1962280
hg1862280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv607n54
Supporting Variantsnssv727697
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548071
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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