A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216720



Internal ID22362618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2316383..2316528hg38UCSC Ensembl
chr16:2366384..2366529hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375973, nssv14386590, nssv14373390
SamplesHG00731, HG00732, HG00733
Known GenesABCA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216720
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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