A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311040



Internal ID22225655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190113931..190114311hg38UCSC Ensembl
chr3:189831720..189832100hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200041
Supporting Variants
SamplesHG00733
Known GenesLEPREL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311040
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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