A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457686



Internal ID22251693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97260908..97260908hg38UCSC Ensembl
chr6:97708784..97708784hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523653
Supporting Variants
SamplesHG00733
Known GenesMIR548H3, MMS22L
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)nssv14457686
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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