A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14316016



Internal ID22190635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240060353..240060353hg38UCSC Ensembl
chr1:240223653..240223653hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561644
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14316016
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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