A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523573



Internal ID22393001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47325025..47325025hg38UCSC Ensembl
chr17:45402391..45402391hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419098, nssv14446833
SamplesHG00733, HG00514
Known GenesEFCAB13
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)nsv3523573
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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