A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286304



Internal ID22138315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17565207..17565607hg38UCSC Ensembl
chr19:17676016..17676416hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536414
Supporting Variants
SamplesHG00513
Known GenesCOLGALT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286304
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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