A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220690



Internal ID22365315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114595051..114641120hg38UCSC Ensembl
chr11:114465773..114511842hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3846070
hg1946070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1581n152
Supporting Variantsnssv14419527, nssv14444769
SamplesHG00733, HG00514
Known GenesNXPE4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220690
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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