A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538610



Internal ID22407793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200764608..200764608hg38UCSC Ensembl
chr2:201629331..201629331hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395374
SamplesNA19240
Known GenesAOX2P
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538610
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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