A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394308



Internal ID22324302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239124645..239124734hg38UCSC Ensembl
chr2:240046341..240046430hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170381
Supporting Variants
SamplesNA19240
Known GenesHDAC4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394308
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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