A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301978



Internal ID22258115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36778971..36785478hg38UCSC Ensembl
chr21:38151272..38157779hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg386508
hg196508
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222021
Supporting Variants
SamplesNA19238
Known GenesHLCS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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