A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279761



Internal ID22378065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467427..60467502hg38UCSC Ensembl
chr2:60694562..60694637hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433367
SamplesHG00514
Known GenesBCL11A
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)nsv3279761
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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