A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512950



Internal ID15852372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37645014..37645429hg38UCSC Ensembl
Outerchr8:37502532..37502947hg19UCSC Ensembl
Outerchr8:37621690..37622105hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381095
hg191095
hg181095
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625602
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)nsv512950
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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