A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192836



Internal ID22343367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48290207..48290298hg38UCSC Ensembl
chr22:48686019..48686110hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434502, nssv14466059, nssv14408123
SamplesNA19240, HG00733, 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)nsv3192836
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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