A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288071



Internal ID22386481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6210534..6210884hg38UCSC Ensembl
chr10:6252497..6252847hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435679
SamplesHG00514
Known GenesPFKFB3
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)nsv3288071
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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