A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226706



Internal ID22369419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57933194..57933741hg38UCSC Ensembl
chr16:57967098..57967645hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372895, nssv14378661, nssv14391646, nssv14390766, nssv14390856, nssv14381690, nssv14375048, nssv14373527
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCNGB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226706
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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