A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208058



Internal ID22356358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128082962..128086564hg38UCSC Ensembl
chr12:128567507..128571109hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383603
hg193603
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2056n152
Supporting Variantsnssv14397224, nssv14397223
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208058
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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