A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306947



Internal ID22303833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47407651..47419700hg38UCSC Ensembl
chr3:47449141..47461190hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3812050
hg1912050
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202159
Supporting Variants
SamplesNA19240
Known GenesPTPN23, SCAP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306947
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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