A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399098



Internal ID22330209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80693264..80693264hg38UCSC Ensembl
chr5:79989083..79989083hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541024
Supporting Variants
SamplesNA19240
Known GenesMSH3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399098
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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