A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200473



Internal ID22349916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240967905..240990014hg38UCSC Ensembl
chr2:241907322..241929431hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3822110
hg1922110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5114n152
Supporting Variantsnssv14454289, nssv14432713
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)nsv3200473
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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