A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512960



Internal ID15852382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91541533..91541555hg38UCSC Ensembl
Outerchr8:92553761..92553783hg19UCSC Ensembl
Outerchr8:92622937..92622959hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381185
hg191185
hg181185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625613
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)nsv512960
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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