A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512777



Internal ID15505513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119693772..119693839hg38UCSC Ensembl
Outerchr2:120451348..120451415hg19UCSC Ensembl
Outerchr2:120167818..120167885hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381017
hg191017
hg181017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625408
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)nsv512777
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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