A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4020308



Internal ID22081939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151031333..151070459hg38UCSC Ensembl
Outerchr5:151025458..151073305hg38UCSC Ensembl
Innerchr5:150410894..150450020hg19UCSC Ensembl
Outerchr5:150405019..150452866hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3847848
hg1947848
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156395
Supporting Variants
Samples
Known GenesGPX3, TNIP1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4020308
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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