A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285791



Internal ID22384172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107953778..107953875hg38UCSC Ensembl
chr6:108274982..108275079hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8053n152
Supporting Variantsnssv14436653
SamplesHG00514
Known GenesSEC63
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)nsv3285791
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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