A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512803



Internal ID15852225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:56731215..56731648hg38UCSC Ensembl
Outerchr3:56765243..56765676hg19UCSC Ensembl
Outerchr3:56740283..56740716hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38983
hg19983
hg18983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625437
Samples1
Known GenesARHGEF3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512803
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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