A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309593



Internal ID22167083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223031357..223031436hg38UCSC Ensembl
chr1:223204699..223204778hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524868
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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