A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513339



Internal ID15506075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123583844..123584570hg38UCSC Ensembl
Outerchr11:123454552..123455278hg19UCSC Ensembl
Outerchr11:122959762..122960488hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625730
Samples1
Known GenesGRAMD1B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513339
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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