A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496274



Internal ID273352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34527713..34541713hg38UCSC Ensembl
chr14:34996919..35010919hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696839
Samples
Known GenesEAPP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496274
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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