A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513547



Internal ID15506283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47670186..47671164hg38UCSC Ensembl
Outerchr20:46298930..46299908hg19UCSC Ensembl
Outerchr20:45732337..45733315hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38860
hg19860
hg18860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625962
Samples1
Known GenesSULF2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513547
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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