A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625513



Internal ID15502360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24683643..24684328hg38UCSC Ensembl
Outerchr6:24683871..24684556hg19UCSC Ensembl
Outerchr6:24791850..24792535hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38819
hg19819
hg18819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512870
Supporting Variants
Samples1
Known GenesACOT13
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625513
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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