A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405881



Internal ID22305933
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 StatusS
Merged Variantsnsv3286956
Supporting Variants
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)nssv14405881
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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