A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298119



Internal ID22276212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183870280..183870380hg38UCSC Ensembl
chr1:183839414..183839514hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194547
Supporting Variants
SamplesNA19239
Known GenesRGL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298119
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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