A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180512



Internal ID22336105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51273146..51273457hg38UCSC Ensembl
chr19:51776400..51776711hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4322n152
Supporting Variantsnssv14291782, nssv14291784, nssv14291783
SamplesNA19239, HG00731, NA19240
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)nsv3180512
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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