A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513524



Internal ID8818230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33458692..33459182hg38UCSC Ensembl
Outerchr19:33949598..33950088hg19UCSC Ensembl
Outerchr19:38641438..38641928hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381062
hg191062
hg181062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625938
Samples1
Known GenesPEPD
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513524
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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