A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512788



Internal ID15505524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231352834..231353747hg38UCSC Ensembl
Outerchr2:232217546..232218459hg19UCSC Ensembl
Outerchr2:231925790..231926703hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38998
hg19998
hg18998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625420
Samples1
Known GenesARMC9
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512788
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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