A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3300616



Internal ID22389116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45229189..45229239hg38UCSC Ensembl
chr19:45732447..45732497hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458876, nssv14407423
SamplesNA19240, HG00733
Known GenesEXOC3L2
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)nsv3300616
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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