A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279890



Internal ID22378197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:98837543..98837720hg38UCSC Ensembl
chr3:98556387..98556564hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6084n152
Supporting Variantsnssv14434581
SamplesHG00514
Known GenesDCBLD2
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)nsv3279890
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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