A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319336



Internal ID22283394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40548198..40548278hg38UCSC Ensembl
chr5:40548300..40548380hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526921
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319336
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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