A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409717



Internal ID22323171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64011753..64012166hg38UCSC Ensembl
chr20:62643106..62643519hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3293173
Supporting Variants
SamplesNA19240
Known GenesPRPF6
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)nssv14409717
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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