A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511596



Internal ID15851021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76366078..76368775hg38UCSC Ensembl
Outerchr17:76362462..76370194hg38UCSC Ensembl
Innerchr17:74362159..74364856hg19UCSC Ensembl
Outerchr17:74358543..74366275hg19UCSC Ensembl
Innerchr17:71873754..71876451hg18UCSC Ensembl
Outerchr17:71870138..71877870hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg387733
hg197733
hg187733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626225
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)nsv511596
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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