A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286263



Internal ID22190528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16967863..16967863hg38UCSC Ensembl
chr19:17078673..17078673hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561520
Supporting Variants
SamplesHG00731
Known GenesCPAMD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286263
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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