A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511589



Internal ID15851014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37392762..37405930hg38UCSC Ensembl
Innerchr17:35755867..35758648hg19UCSC Ensembl
Outerchr17:35749716..35766020hg19UCSC Ensembl
Innerchr17:32829980..32832761hg18UCSC Ensembl
Outerchr17:32823829..32840133hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3813169
hg1916305
hg1816305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626217
Samples1
Known GenesACACA
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511589
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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