A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505032



Internal ID281820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74290661..74290767hg38UCSC Ensembl
chr14:74757364..74757470hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699284
Samples
Known GenesABCD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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