A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3274189



Internal ID22377701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42228017..42228478hg38UCSC Ensembl
chr12:42621819..42622280hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1821n152
Supporting Variantsnssv14450134
SamplesHG00733
Known GenesYAF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3274189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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