A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440610



Internal ID22237111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85154441..85154441hg38UCSC Ensembl
chr1:85620124..85620124hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524240
Supporting Variants
SamplesHG00733
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)nssv14440610
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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