A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554306



Internal ID22423169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2787209..2787209hg38UCSC Ensembl
chr16:2837210..2837210hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392575
SamplesNA19240
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)nsv3554306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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