A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186381



Internal ID22339165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8449527..8449834hg38UCSC Ensembl
chr19:8514411..8514718hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4123n152
Supporting Variantsnssv14454290, nssv14432392, nssv14406156
SamplesNA19240, HG00733, HG00514
Known GenesHNRNPM
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186381
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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