A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466206



Internal ID22218478
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 StatusS
Merged Variantsnsv3520788
Supporting Variants
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)nssv14466206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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