A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572540



Internal ID16359949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48381700..48389869hg38UCSC Ensembl
Innerchr16:48415611..48423780hg19UCSC Ensembl
Innerchr16:46973112..46981281hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg388170
hg198170
hg188170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv856652
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572540
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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