A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227204



Internal ID22369768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39697431..39699755hg38UCSC Ensembl
chr14:40166635..40168959hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371300, nssv14371301, nssv14371302
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227204
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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