A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284985



Internal ID22383357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11637927..11638025hg38UCSC Ensembl
chr16:11731783..11731881hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454431, nssv14431468
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3284985
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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