A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154943



Internal ID22085448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78628966..78633507hg38UCSC Ensembl
Outerchr13:78628317..78635700hg38UCSC Ensembl
Innerchr13:79203101..79207642hg19UCSC Ensembl
Outerchr13:79202452..79209835hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg387384
hg197384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4008263
Samples
Known GenesRNF219
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1154943
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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