A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512956



Internal ID15852378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:55744116..55744375hg38UCSC Ensembl
Outerchr8:56656675..56656934hg19UCSC Ensembl
Outerchr8:56819229..56819488hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38974
hg19974
hg18974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625608
Samples1
Known GenesTMEM68
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512956
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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