A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511380



Internal ID15850805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77147083..77159608hg38UCSC Ensembl
Outerchr7:77140868..77183137hg38UCSC Ensembl
Innerchr7:76776400..76788925hg19UCSC Ensembl
Outerchr7:76770185..76812454hg19UCSC Ensembl
Innerchr7:76614336..76626861hg18UCSC Ensembl
Outerchr7:76608121..76650390hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3842270
hg1942270
hg1842270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625986
Samples1
Known GenesCCDC146
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511380
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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