A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286298



Internal ID22384687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199807..7199901hg38UCSC Ensembl
chr12:7352403..7352497hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1705n152
Supporting Variantsnssv14392683, nssv14421009, nssv14447043
SamplesNA19240, HG00733, HG00514
Known GenesPEX5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3286298
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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