A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288208



Internal ID22386620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73399663..73424715hg38UCSC Ensembl
chr12:73793443..73818495hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3825053
hg1925053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1901n152
Supporting Variantsnssv14449490
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3288208
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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