A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573347



Internal ID16360756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81125832..81130855hg38UCSC Ensembl
Innerchr16:81159437..81164460hg19UCSC Ensembl
Innerchr16:79716938..79721961hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg385024
hg195024
hg185024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv861927
Samples
Known GenesPKD1L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573347
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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