A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282369



Internal ID22380703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194152395..194152462hg38UCSC Ensembl
chr3:193870184..193870251hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6317n152
Supporting Variantsnssv14435386
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)nsv3282369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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