A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440065



Internal ID22231354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7803433..7803433hg38UCSC Ensembl
chr1:7863493..7863493hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523452
Supporting Variants
SamplesHG00733
Known GenesPER3
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)nssv14440065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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