A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211248



Internal ID22358866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64535578..64535881hg38UCSC Ensembl
chr14:65002296..65002599hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370330, nssv14370331
SamplesHG00512, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211248
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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