A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297603



Internal ID22306746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19679507..19679577hg38UCSC Ensembl
chr20:19660151..19660221hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535020
Supporting Variants
SamplesNA19240
Known GenesSLC24A3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297603
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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