A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313045



Internal ID22306783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232118342..232123722hg38UCSC Ensembl
chr1:232254088..232259468hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg385381
hg195381
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208692
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313045
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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