A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3290537



Internal ID22387746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30130716..30130809hg38UCSC Ensembl
chr19:30621623..30621716hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4234n152
Supporting Variantsnssv14453717
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)nsv3290537
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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