A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173875



Internal ID22332525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:33471788..33472121hg38UCSC Ensembl
chr4:33473410..33473743hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314133
SamplesNA19238
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)nsv3173875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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