A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364108



Internal ID22271634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240200..46242944hg38UCSC Ensembl
chr1:46705872..46708616hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382745
hg192745
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195304
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364108
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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