A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228272



Internal ID22370518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45939351..45943250hg38UCSC Ensembl
chr21:47359265..47363164hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14302521, nssv14302522, nssv14302519, nssv14302524, nssv14302523, nssv14302517, nssv14302518, nssv14302520, nssv14302516
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPCBP3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228272
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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