A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512857



Internal ID15505593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:108929942..108930589hg38UCSC Ensembl
Outerchr5:108265643..108266290hg19UCSC Ensembl
Outerchr5:108293542..108294189hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38950
hg19950
hg18950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625498
Samples1
Known GenesFER
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512857
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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