A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512799



Internal ID15852221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45133362..45133870hg38UCSC Ensembl
Outerchr3:45174854..45175362hg19UCSC Ensembl
Outerchr3:45149858..45150366hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625433
Samples1
Known GenesCDCP1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512799
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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