A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280393



Internal ID22378705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68323780..68323860hg38UCSC Ensembl
chr5:67619608..67619688hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455889, nssv14411890
SamplesNA19240, HG00733
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)nsv3280393
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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