A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302001



Internal ID22163904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37756593..37757635hg38UCSC Ensembl
chr21:39128896..39129938hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538804
Supporting Variants
SamplesHG00514
Known GenesKCNJ6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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