A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306040



Internal ID22165587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40084136..40084263hg38UCSC Ensembl
chr3:40125627..40125754hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207485
Supporting Variants
SamplesHG00514
Known GenesMYRIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306040
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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