A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214605



Internal ID22361214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68372261..68372391hg38UCSC Ensembl
chr11:68139729..68139859hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1434n152
Supporting Variantsnssv14443295
SamplesHG00733
Known GenesLRP5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214605
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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