A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625498



Internal ID15502345
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 StatusS
Merged Variantsnsv512857
Supporting Variants
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)nssv625498
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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