A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381893



Internal ID22289799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106710120..106710120hg38UCSC Ensembl
chr11:106580846..106580846hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555519
Supporting Variants
SamplesNA19240
Known GenesGUCY1A2
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)nssv14381893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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