A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220316



Internal ID22365045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8422728..8422979hg38UCSC Ensembl
chr19:8487612..8487863hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4122n152
Supporting Variantsnssv14285900, nssv14285901, nssv14285282, nssv14285281, nssv14285280, nssv14285283
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMARCH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220316
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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