A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214904



Internal ID22361411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62629317..62629396hg38UCSC Ensembl
chr12:63023097..63023176hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1878n152
Supporting Variantsnssv14396685
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)nsv3214904
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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