A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3299272



Internal ID22388940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17349123..17349216hg38UCSC Ensembl
chr19:17459932..17460025hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4166n152
Supporting Variantsnssv14460144
SamplesHG00733
Known Genes
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)nsv3299272
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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