A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378740



Internal ID22233526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49114203..49114266hg38UCSC Ensembl
chr15:49406400..49406463hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181510
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYJ4 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378740
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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