A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288284



Internal ID22386697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3895682..3895784hg38UCSC Ensembl
chr11:3916912..3917014hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415976
SamplesHG00514
Known GenesSTIM1
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)nsv3288284
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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