A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511348



Internal ID15504087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813034..104814546hg38UCSC Ensembl
Outerchr6:104811112..104818243hg38UCSC Ensembl
Innerchr6:105260909..105262421hg19UCSC Ensembl
Outerchr6:105258987..105266118hg19UCSC Ensembl
Innerchr6:105367602..105369114hg18UCSC Ensembl
Outerchr6:105365680..105372811hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg387132
hg197132
hg187132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625766
Samples1
Known GenesHACE1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511348
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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