A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511366



Internal ID15850791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1990805..1993168hg38UCSC Ensembl
Outerchr7:1979235..1999959hg38UCSC Ensembl
Innerchr7:2030440..2032803hg19UCSC Ensembl
Outerchr7:2018870..2039594hg19UCSC Ensembl
Innerchr7:1996966..1999329hg18UCSC Ensembl
Outerchr7:1985396..2006120hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3820725
hg1920725
hg1820725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625906
Samples1
Known GenesMAD1L1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511366
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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