A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226157



Internal ID22369062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42860701..42864350hg38UCSC Ensembl
chr21:44280811..44284460hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303505, nssv14303506, nssv14303507, nssv14303511, nssv14303504, nssv14303508, nssv14303510, nssv14303509, nssv14303503
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesWDR4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226157
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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