A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288327



Internal ID22386740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70220588..70220656hg38UCSC Ensembl
chr10:71980344..71980412hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv978n152
Supporting Variantsnssv14412455
SamplesHG00514
Known GenesPPA1
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)nsv3288327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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