A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007064



Internal ID22068695
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 Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154613
Supporting Variants
Samples
Known GenesACTL8, ARHGEF10L
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007064
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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