A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285515



Internal ID22383894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100753038..100753094hg38UCSC Ensembl
chr8:101765266..101765322hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9273n152
Supporting Variantsnssv14438556
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)nsv3285515
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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