A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572483



Internal ID16359892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46407104..46466539hg38UCSC Ensembl
Innerchr16:46441016..46500451hg19UCSC Ensembl
Innerchr16:44998517..45057952hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3859436
hg1959436
hg1859436
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5104n54
Supporting Variantsnssv856577, nssv856576, nssv856575
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572483
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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