A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511591



Internal ID15851016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49274628..49275475hg38UCSC Ensembl
Outerchr17:49268201..49277423hg38UCSC Ensembl
Innerchr17:47351990..47352837hg19UCSC Ensembl
Outerchr17:47345563..47354785hg19UCSC Ensembl
Innerchr17:44706989..44707836hg18UCSC Ensembl
Outerchr17:44700562..44709784hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg389223
hg199223
hg189223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626219
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511591
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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