A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284282



Internal ID22382644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368453..172368662hg38UCSC Ensembl
chr5:171795457..171795666hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7614n152
Supporting Variantsnssv14435600
SamplesHG00514
Known GenesSH3PXD2B
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)nsv3284282
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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