A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421504



Internal ID22159605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177919207..177919207hg38UCSC Ensembl
chr2:178783934..178783934hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520771
Supporting Variants
SamplesHG00514
Known GenesPDE11A
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)nssv14421504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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