A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447710



Internal ID22243269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766722..201766722hg38UCSC Ensembl
chr2:202631445..202631445hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519711
Supporting Variants
SamplesHG00733
Known GenesALS2
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)nssv14447710
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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