A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219484



Internal ID22364493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51457387..51458222hg38UCSC Ensembl
chr16:51491298..51492133hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375761
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219484
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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