A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216577



Internal ID22362528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24477113..24478439hg38UCSC Ensembl
chr20:24457749..24459075hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298351, nssv14298353, nssv14298355, nssv14298347, nssv14298352, nssv14298348, nssv14298349, nssv14298350, nssv14298354
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSYNDIG1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216577
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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