A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513449



Internal ID15852871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28914714..28915294hg38UCSC Ensembl
Outerchr16:28926035..28926615hg19UCSC Ensembl
Outerchr16:28833536..28834116hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625852
Samples1
Known GenesRABEP2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513449
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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