A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320738



Internal ID22275633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2454349..2454570hg38UCSC Ensembl
chr5:2454463..2454684hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196127
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320738
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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