A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548061



Internal ID16335470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161525976..161572474hg38UCSC Ensembl
Innerchr1:161495766..161542264hg19UCSC Ensembl
Innerchr1:159762390..159808888hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3846499
hg1946499
hg1846499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727683
Samples
Known GenesFCGR3A, HSPA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548061
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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