A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321971



Internal ID22283057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79352143..79352486hg38UCSC Ensembl
chr5:78647966..78648309hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525655
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321971
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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