A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306071



Internal ID22225068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40712255..40712937hg38UCSC Ensembl
chr3:40753746..40754428hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207819
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306071
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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