A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512853



Internal ID15505589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79130705..79130930hg38UCSC Ensembl
Outerchr5:78426528..78426753hg19UCSC Ensembl
Outerchr5:78462284..78462509hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382346
hg192346
hg182346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625494
Samples1
Known GenesBHMT
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512853
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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