A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429238



Internal ID22170853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26005359..26005359hg38UCSC Ensembl
chr8:25862875..25862875hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536560
Supporting Variants
SamplesHG00514
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)nssv14429238
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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