A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510538



Internal ID287150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56220257..56223367hg38UCSC Ensembl
chr14:56686975..56690085hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383111
hg193111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696383
Samples
Known GenesPELI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510538
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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