A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423938



Internal ID22163120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40084136..40084136hg38UCSC Ensembl
chr3:40125627..40125627hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540234
Supporting Variants
SamplesHG00514
Known GenesMYRIP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14423938
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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