A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181510



Internal ID22336610
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389388, nssv14388395, nssv14385625, nssv14378740, nssv14376215
SamplesHG00512, NA19238, NA19239, NA19240, HG00733
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)nsv3181510
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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