A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214175



Internal ID22360902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:11547399..11554787hg38UCSC Ensembl
chrUn_gl000232:62..7450hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg387389
hg197389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5632n152
Supporting Variantsnssv14467184
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214175
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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