A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228690



Internal ID22370793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21183088..21183482hg38UCSC Ensembl
chr14:21651247..21651641hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2545n152
Supporting Variantsnssv14372482, nssv14372483, nssv14372484, nssv14372485
SamplesNA19239, HG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228690
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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