A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513456



Internal ID15852878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81703984..81704272hg38UCSC Ensembl
Outerchr16:81737589..81737877hg19UCSC Ensembl
Outerchr16:80295090..80295378hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38925
hg19925
hg18925
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625859
Samples1
Known GenesCMIP
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513456
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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