A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511595



Internal ID15851020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57610759..57612435hg38UCSC Ensembl
Outerchr17:57610128..57620442hg38UCSC Ensembl
Innerchr17:55688120..55689796hg19UCSC Ensembl
Outerchr17:55687489..55697803hg19UCSC Ensembl
Innerchr17:53043119..53044795hg18UCSC Ensembl
Outerchr17:53042488..53052802hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3810315
hg1910315
hg1810315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626224
Samples1
Known GenesMSI2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511595
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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