A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548065



Internal ID15988788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161572474..161647726hg38UCSC Ensembl
Innerchr1:161542264..161617516hg19UCSC Ensembl
Innerchr1:159808888..159884140hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3875253
hg1975253
hg1875253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv606n54
Supporting Variantsnssv727688
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)nsv548065
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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