A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286129



Internal ID22221124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14621523..14623314hg38UCSC Ensembl
chr19:14732335..14734126hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226268
Supporting Variants
SamplesHG00733
Known GenesEMR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286129
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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