A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511284



Internal ID15504023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42628742..42630882hg38UCSC Ensembl
Outerchr5:42626104..42631162hg38UCSC Ensembl
Innerchr5:42628844..42630984hg19UCSC Ensembl
Outerchr5:42626206..42631264hg19UCSC Ensembl
Innerchr5:42664601..42666741hg18UCSC Ensembl
Outerchr5:42661963..42667021hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg385059
hg195059
hg185059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625055
Samples1
Known GenesGHR
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511284
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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