A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220645



Internal ID22365286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43369211..43369309hg38UCSC Ensembl
chr18:40949176..40949274hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3830n152
Supporting Variantsnssv14431927, nssv14456397
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220645
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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