A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14316074



Internal ID22131663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138135197..138135258hg38UCSC Ensembl
chr4:139056351..139056412hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198147
Supporting Variants
SamplesHG00513
Known GenesSLC7A11-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14316074
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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