A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513454



Internal ID15852876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71946682..71946870hg38UCSC Ensembl
Outerchr16:71980585..71980773hg19UCSC Ensembl
Outerchr16:70538086..70538274hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg381019
hg191019
hg181019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625857
Samples1
Known GenesPKD1L3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513454
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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