A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510056



Internal ID286686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100500176..100500341hg38UCSC Ensembl
chr14:100966513..100966678hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698803
Samples
Known GenesWDR25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510056
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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