A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217523



Internal ID22363157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44088794..44088888hg38UCSC Ensembl
chr21:45508675..45508769hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300978, nssv14300976, nssv14300977
SamplesNA19238, NA19239, NA19240
Known GenesTRAPPC10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217523
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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