A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199391



Internal ID22348979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181742912..181743007hg38UCSC Ensembl
chr3:181460700..181460795hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6277n152
Supporting Variantsnssv14408978, nssv14462989
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199391
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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