A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229218



Internal ID22371131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48653714..48657021hg38UCSC Ensembl
chr10:49861759..49865066hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv920n152
Supporting Variantsnssv14438128
SamplesHG00514
Known GenesARHGAP22
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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