A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453513



Internal ID22248253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48427732..48427838hg38UCSC Ensembl
chr13:49001868..49001974hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288239
Supporting Variants
SamplesHG00733
Known GenesLPAR6, RB1
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)nssv14453513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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