A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418676



Internal ID22155441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117926048..117926164hg38UCSC Ensembl
chr11:117796763..117796879hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3289108
Supporting Variants
SamplesHG00514
Known GenesTMPRSS13
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14418676
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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