A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285953



Internal ID22384337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79699320..79699424hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3671n152
Supporting Variantsnssv14407178, nssv14464058
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)nsv3285953
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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