A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625501



Internal ID15849034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134441088..134441672hg38UCSC Ensembl
Outerchr5:133776779..133777363hg19UCSC Ensembl
Outerchr5:133804678..133805262hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381641
hg191641
hg181641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512859
Supporting Variants
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)nssv625501
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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