A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184280



Internal ID22338064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91055632..91055944hg38UCSC Ensembl
chr10:92815389..92815701hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14355616
SamplesNA19238
Known GenesLINC00502
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB9 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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