A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421351



Internal ID22159378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216766054..216766189hg38UCSC Ensembl
chr2:217630777..217630912hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174619
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421351
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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