A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288574



Internal ID22386987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82580439..82580649hg38UCSC Ensembl
chr17:80538315..80538525hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405996
SamplesNA19240
Known GenesFOXK2
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)nsv3288574
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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