A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287452



Internal ID22191357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57225944..57227487hg38UCSC Ensembl
chr19:57737312..57738855hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215303
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287452
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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