A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285513



Internal ID22383892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95235296..95235423hg38UCSC Ensembl
chr12:95629072..95629199hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424065, nssv14396932
SamplesNA19240, HG00514
Known GenesVEZT
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)nsv3285513
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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