A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512954



Internal ID15852376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47763558..47764083hg38UCSC Ensembl
Outerchr8:48676119..48676644hg19UCSC Ensembl
Outerchr8:48838672..48839197hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38878
hg19878
hg18878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625606
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)nsv512954
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