A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394942



Internal ID22328549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180507331..180507331hg38UCSC Ensembl
chr2:181372058..181372058hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519704
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394942
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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