A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408726



Internal ID22318124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143526106..143526429hg38UCSC Ensembl
chr2:144283675..144283998hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187563
Supporting Variants
SamplesNA19240
Known GenesARHGAP15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408726
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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