A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413880



Internal ID22149228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110120506..110120506hg38UCSC Ensembl
chr1:110663128..110663128hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382782
hg192782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538069
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14413880
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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