A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064529



Internal ID19153748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81189638..81270154hg38UCSC Ensembl
Innerchr16:81223243..81303759hg19UCSC Ensembl
Innerchr16:79780744..79861260hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3880517
hg1980517
hg1880517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559834
Samples
Known GenesBCMO1, PKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064529
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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