A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385451



Internal ID22310388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76304512..76306907hg38UCSC Ensembl
chr9:78919428..78921823hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283646
Supporting Variants
SamplesNA19240
Known GenesPCSK5
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)nssv14385451
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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