A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512862



Internal ID15505598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168726394..168726838hg38UCSC Ensembl
Outerchr5:168153399..168153843hg19UCSC Ensembl
Outerchr5:168085977..168086421hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38889
hg19889
hg18889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625504
Samples1
Known GenesSLIT3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512862
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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