A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548069



Internal ID15988792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161599629..161647726hg38UCSC Ensembl
Innerchr1:161569419..161617516hg19UCSC Ensembl
Innerchr1:159836043..159884140hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3848098
hg1948098
hg1848098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv607n54
Supporting Variantsnssv727694, nssv727695, nssv727693
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)nsv548069
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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