A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401151



Internal ID22313655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79014067..79014067hg38UCSC Ensembl
chr6:79723784..79723784hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524130
Supporting Variants
SamplesNA19240
Known GenesPHIP
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)nssv14401151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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