A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222626



Internal ID22366647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12810511..12810583hg38UCSC Ensembl
chr4:49168719..49168791hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5644n152
Supporting Variantsnssv14408920, nssv14434049
SamplesNA19240, 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)nsv3222626
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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