A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288818



Internal ID22387235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75254671..75254755hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14437922
SamplesHG00514
Known Genes
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)nsv3288818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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