A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457328



Internal ID22251406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81517161..81517254hg38UCSC Ensembl
chr16:81550766..81550859hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287381
Supporting Variants
SamplesHG00733
Known GenesCMIP
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)nssv14457328
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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