A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304987



Internal ID22131089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206641337..206642314hg38UCSC Ensembl
chr1:206814682..206815659hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207346
Supporting Variants
SamplesHG00513
Known GenesDYRK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304987
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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