A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286956



Internal ID22385354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89186165..89186260hg38UCSC Ensembl
chr16:89252573..89252668hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405881
SamplesNA19240
Known GenesCDH15
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)nsv3286956
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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