A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513443



Internal ID15852865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3368647..3370313hg38UCSC Ensembl
Outerchr16:3418647..3420313hg19UCSC Ensembl
Outerchr16:3358648..3360314hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625846
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513443
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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