A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424150



Internal ID22163426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113695568..113695927hg38UCSC Ensembl
chr3:113414415..113414774hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174540
Supporting Variants
SamplesHG00514
Known GenesKIAA2018
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424150
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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