A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523384



Internal ID22392811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94317440..94317739hg38UCSC Ensembl
chr8:95329668..95329967hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342788, nssv14342789
SamplesNA19238, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523384
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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