A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512975



Internal ID15852397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142185657..142185873hg38UCSC Ensembl
Outerchr8:143267018..143267234hg19UCSC Ensembl
Outerchr8:143264925..143265141hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381951
hg191951
hg181951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625629
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)nsv512975
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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