A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154613



Internal ID22085118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17672282..17800901hg38UCSC Ensembl
Outerchr1:17663270..17805774hg38UCSC Ensembl
Innerchr1:17998777..18127396hg19UCSC Ensembl
Outerchr1:17989765..18132269hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38142505
hg19142505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4007064
Samples
Known GenesACTL8, ARHGEF10L
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1154613
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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