A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299549



Internal ID22275878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52424468..52424638hg38UCSC Ensembl
chr20:51041007..51041177hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216005
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299549
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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