A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312060



Internal ID22131123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229157347..229157438hg38UCSC Ensembl
chr1:229293094..229293185hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197777
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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