A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285884



Internal ID22384266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79893802..79893906hg38UCSC Ensembl
chr17:77867601..77867705hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3673n152
Supporting Variantsnssv14467573
SamplesHG00733
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)nsv3285884
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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