A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520419



Internal ID22389827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8449532..8449830hg38UCSC Ensembl
chr19:8514416..8514714hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4123n152
Supporting Variantsnssv14285907, nssv14285905, nssv14285906, nssv14285909, nssv14285903, nssv14285910, nssv14285902, nssv14285904, nssv14285908
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHNRNPM
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)nsv3520419
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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