A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302006



Internal ID22208167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823947..37823947hg38UCSC Ensembl
chr21:39196249..39196249hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562394
Supporting Variants
SamplesHG00732
Known GenesKCNJ6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302006
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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