A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229601



Internal ID22371399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81704149..81711026hg38UCSC Ensembl
chr16:81737754..81744631hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg386878
hg196878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385250, nssv14390965, nssv14389792, nssv14372893, nssv14392377, nssv14379162
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesCMIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229601
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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