A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420275



Internal ID22157794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110148222..110148222hg38UCSC Ensembl
chr2:110905799..110905799hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558724
Supporting Variants
SamplesHG00514
Known GenesNPHP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420275
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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