A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512814



Internal ID15505550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149380050..149380806hg38UCSC Ensembl
Outerchr3:149097837..149098593hg19UCSC Ensembl
Outerchr3:150580527..150581283hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381013
hg191013
hg181013
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625449
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)nsv512814
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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