A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553190



Internal ID22422076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1076237..1076237hg38UCSC Ensembl
chr16:1126237..1126237hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375746
SamplesNA19240
Known GenesSSTR5, SSTR5-AS1
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)nsv3553190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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