A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219808



Internal ID22364709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40089101..40092700hg38UCSC Ensembl
chr17:38245354..38248953hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3558n152
Supporting Variantsnssv14431998
SamplesHG00514
Known GenesTHRA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219808
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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