A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228065



Internal ID22370365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126921580..126921755hg38UCSC Ensembl
chr11:126791476..126791651hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1621n152
Supporting Variantsnssv14418747
SamplesHG00514
Known GenesKIRREL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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