A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4005220



Internal ID22066851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183810956..183816405hg38UCSC Ensembl
Outerchr1:183801905..183816462hg38UCSC Ensembl
Innerchr1:183780090..183785539hg19UCSC Ensembl
Outerchr1:183771039..183785596hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3814558
hg1914558
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154436
Supporting Variants
Samples
Known GenesRGL1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4005220
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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