A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443295



Internal ID22239435
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 StatusS
Merged Variantsnsv3214605
Supporting Variants
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)nssv14443295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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