A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511367



Internal ID15850792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75454620..75475515hg38UCSC Ensembl
Outerchr7:75452848..75483120hg38UCSC Ensembl
Innerchr7:75083893..75104782hg19UCSC Ensembl
Outerchr7:75082121..75112397hg19UCSC Ensembl
Innerchr7:74921829..74942718hg18UCSC Ensembl
Outerchr7:74920057..74950333hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3830273
hg1930277
hg1830277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625971
Samples1
Known GenesPOM121C
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511367
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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