A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302230



Internal ID22323120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12698688..12699024hg38UCSC Ensembl
chrUn_gl000235:6958..7294hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519907
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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