A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573405



Internal ID16014128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83789794..83850383hg38UCSC Ensembl
Innerchr16:83823399..83883988hg19UCSC Ensembl
Innerchr16:82380900..82441489hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3860590
hg1960590
hg1860590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149325
SamplesHGDP00866
Known GenesCDH13, HSBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573405
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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