A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324595



Internal ID22326081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175266583..175266664hg38UCSC Ensembl
chr5:174693586..174693667hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210019
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324595
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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