A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007066



Internal ID22068697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17805774..17831832hg38UCSC Ensembl
Outerchr1:17800901..17833000hg38UCSC Ensembl
Innerchr1:18132269..18158327hg19UCSC Ensembl
Outerchr1:18127396..18159495hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3832100
hg1932100
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154624
Supporting Variants
Samples
Known GenesACTL8
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007066
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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