A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530627



Internal ID22400001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221566987..221566987hg38UCSC Ensembl
chr2:222431707..222431707hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449812
SamplesHG00733
Known GenesEPHA4
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)nsv3530627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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