A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554823



Internal ID22423676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26209966..26209966hg38UCSC Ensembl
chr22:26605932..26605932hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396137
SamplesNA19240
Known GenesSEZ6L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554823
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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