A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548409



Internal ID22417366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68833317..68833317hg38UCSC Ensembl
chr12:69227097..69227097hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441819, nssv14415743
SamplesHG00733, HG00514
Known GenesMDM2
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)nsv3548409
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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