A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544238



Internal ID22413280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49924237..49924237hg38UCSC Ensembl
chr22:50317885..50317885hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382091
hg192091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396952
SamplesNA19240
Known GenesCRELD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544238
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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