A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3298232



Internal ID22388783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58410519..58410751hg38UCSC Ensembl
chr19:58921886..58922118hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4392n152
Supporting Variantsnssv14432474
SamplesHG00514
Known GenesZNF584
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)nsv3298232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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