A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007514



Internal ID22069145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242034266..242388396hg38UCSC Ensembl
Outerchr1:242027428..242392109hg38UCSC Ensembl
Innerchr1:242197568..242551698hg19UCSC Ensembl
Outerchr1:242190730..242555411hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38364682
hg19364682
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154966
Supporting Variants
Samples
Known GenesPLD5
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007514
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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