A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226799



Internal ID22369483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44646352..44722268hg38UCSC Ensembl
chr20:43274993..43350909hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3875917
hg1975917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5281n152
Supporting Variantsnssv14408849
SamplesNA19240
Known GenesADA, LOC79015, WISP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226799
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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