A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208193



Internal ID22356475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50252551..50259350hg38UCSC Ensembl
chr3:50289983..50296782hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5965n152
Supporting Variantsnssv14409346
SamplesNA19240
Known GenesGNAI2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208193
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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