A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511171



Internal ID15850596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161476098..161477386hg38UCSC Ensembl
Outerchr2:161469688..161494261hg38UCSC Ensembl
Innerchr2:162332609..162333897hg19UCSC Ensembl
Outerchr2:162326199..162350772hg19UCSC Ensembl
Innerchr2:162040855..162042143hg18UCSC Ensembl
Outerchr2:162034445..162059018hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3824574
hg1924574
hg1824574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626232
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)nsv511171
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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