A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215245



Internal ID22361643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10501310..10501588hg38UCSC Ensembl
chr19:10611986..10612264hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4134n152
Supporting Variantsnssv14465415
SamplesHG00733
Known GenesKEAP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215245
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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