A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571212



Internal ID16358621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2473633..2475856hg38UCSC Ensembl
Innerchr16:2523634..2525857hg19UCSC Ensembl
Innerchr16:2463635..2465858hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382224
hg192224
hg182224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4866n54
Supporting Variantsnssv852104
Samples
Known GenesNTN3, TBC1D24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571212
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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