A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514792



Internal ID291283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14110476..14110545hg38UCSC Ensembl
chr18:14110475..14110544hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716417
Samples
Known GenesZNF519
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514792
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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