A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512787



Internal ID15852209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218846109..218847332hg38UCSC Ensembl
Outerchr2:219710832..219712055hg19UCSC Ensembl
Outerchr2:219419076..219420299hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381038
hg191038
hg181038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625419
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512787
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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