A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379826



Internal ID22313943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63488540..63488540hg38UCSC Ensembl
chr17:61565901..61565901hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523031
Supporting Variants
SamplesNA19240
Known GenesACE
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)nssv14379826
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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