A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511370



Internal ID15850795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:20709667..20713850hg38UCSC Ensembl
Outerchr7:20704940..20714479hg38UCSC Ensembl
Innerchr7:20749290..20753473hg19UCSC Ensembl
Outerchr7:20744563..20754102hg19UCSC Ensembl
Innerchr7:20715815..20719998hg18UCSC Ensembl
Outerchr7:20711088..20720627hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg389540
hg199540
hg189540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625974
Samples1
Known GenesABCB5
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511370
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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