A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571818



Internal ID16012541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29861040..29874126hg38UCSC Ensembl
Innerchr16:29872361..29885447hg19UCSC Ensembl
Innerchr16:29779862..29792948hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813087
hg1913087
hg1813087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149168
Samples1780862346_A
Known GenesCDIPT, CDIPT-AS1, SEZ6L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571818
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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