A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465050



Internal ID22217401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55159746..55159820hg38UCSC Ensembl
chr19:55671114..55671188hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3298714
Supporting Variants
SamplesHG00733
Known GenesDNAAF3
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)nssv14465050
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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