A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440974



Internal ID22237433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45330022..45330022hg38UCSC Ensembl
chr1:45795694..45795694hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519847
Supporting Variants
SamplesHG00733
Known GenesMUTYH
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)nssv14440974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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