A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281762



Internal ID22380089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205981661..205981801hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433169, nssv14465171
SamplesHG00733, HG00514
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)nsv3281762
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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