A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496820



Internal ID273888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22998741..22999052hg38UCSC Ensembl
chr14:23467950..23468261hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693951
Samples
Known GenesC14orf93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496820
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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