A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512976



Internal ID15852398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143038363..143039412hg38UCSC Ensembl
Outerchr8:144119780..144120829hg19UCSC Ensembl
Outerchr8:144191155..144192204hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625630
Samples1
Known GenesC8orf31
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512976
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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