A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314681



Internal ID22265870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232639783..232640095hg38UCSC Ensembl
chr1:232775529..232775841hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522937
Supporting Variants
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)nssv14314681
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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