A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512806



Internal ID15505542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77322440..77323176hg38UCSC Ensembl
Outerchr3:77371591..77372327hg19UCSC Ensembl
Outerchr3:77454281..77455017hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg381027
hg191027
hg181027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625440
Samples1
Known GenesROBO2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512806
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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