A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385652



Internal ID22310541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3131531..3131591hg38UCSC Ensembl
chr11:3152761..3152821hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219097
Supporting Variants
SamplesNA19240
Known GenesOSBPL5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385652
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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