A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297597



Internal ID22162121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19273830..19274257hg38UCSC Ensembl
chr20:19254474..19254901hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226411
Supporting Variants
SamplesHG00514
Known GenesLOC100130264, SLC24A3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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