A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555827



Internal ID22424660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3127636..3127636hg38UCSC Ensembl
chr11:3148866..3148866hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442602
SamplesHG00733
Known GenesOSBPL5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555827
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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