A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554444



Internal ID22423305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66380287..66380287hg38UCSC Ensembl
chr16:66414190..66414190hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444723
SamplesHG00733
Known GenesCDH5
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)nsv3554444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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