A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3291605



Internal ID22387893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3173259..3175389hg38UCSC Ensembl
chr19:3173257..3175387hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382131
hg192131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4081n152
Supporting Variantsnssv14431839
SamplesHG00514
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)nsv3291605
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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