A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282989



Internal ID22381327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135505..135561hg38UCSC Ensembl
chr3:177188..177244hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434573
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)nsv3282989
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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