A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319397



Internal ID22306146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5796255..5796548hg38UCSC Ensembl
chr5:5796368..5796661hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202306
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319397
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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