A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211370



Internal ID22358949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50165908..50165977hg38UCSC Ensembl
chr22:50604337..50604406hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5815n152
Supporting Variantsnssv14434555
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211370
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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