A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309614



Internal ID22293953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143031398..143031471hg38UCSC Ensembl
chr3:142750240..142750313hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193841
Supporting Variants
SamplesNA19240
Known GenesU2SURP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309614
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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