A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301149



Internal ID22163579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28823475..28830878hg38UCSC Ensembl
chr21:30195797..30203200hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg387404
hg197404
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223073
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301149
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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