A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420294



Internal ID22157820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948974..113952918hg38UCSC Ensembl
chr2:114706551..114710495hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383945
hg193945
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180009
Supporting Variants
SamplesHG00514
Known GenesACTR3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420294
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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