A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212512



Internal ID22359735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16665444..16665872hg38UCSC Ensembl
chr19:16776255..16776683hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286234, nssv14286232, nssv14286233, nssv14286235
SamplesNA19238, NA19239, NA19240, HG00733
Known GenesTMEM38A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212512
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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