A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280335



Internal ID22378646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181742888..181742976hg38UCSC Ensembl
chr3:181460676..181460764hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435342
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)nsv3280335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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