A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537984



Internal ID22407175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26005377..26005377hg38UCSC Ensembl
chr8:25862893..25862893hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466974
SamplesHG00733
Known GenesEBF2
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)nsv3537984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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