A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562394



Internal ID22431148
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14302003, nssv14302007, nssv14302006, nssv14302004, nssv14302008, nssv14302010, nssv14302009, nssv14302005, nssv14302002
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKCNJ6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562394
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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