A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520788



Internal ID22390198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28147164..28147164hg38UCSC Ensembl
chr6:28114942..28114942hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466206
SamplesHG00733
Known GenesZKSCAN8
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)nsv3520788
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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