A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571580



Internal ID16012303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18817605..19022670hg38UCSC Ensembl
Innerchr16:18828927..19033992hg19UCSC Ensembl
Innerchr16:18736428..18941493hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38205066
hg19205066
hg18205066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852870
Samples
Known GenesSMG1, TMC7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571580
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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