A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193943



Internal ID22344326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172960886..172961000hg38UCSC Ensembl
chr3:172678676..172678790hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311445, nssv14311444
SamplesHG00512, HG00514
Known GenesSPATA16
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193943
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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