A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512782



Internal ID15852204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150590125..150591258hg38UCSC Ensembl
Outerchr2:151446639..151447772hg19UCSC Ensembl
Outerchr2:151154885..151156018hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38944
hg19944
hg18944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625414
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)nsv512782
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer