A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395292



Internal ID22315829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948973..113952913hg38UCSC Ensembl
chr2:114706550..114710490hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383941
hg193941
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187011
Supporting Variants
SamplesNA19240
Known GenesACTR3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395292
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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