A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503345



Internal ID280176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73118674..73119024hg38UCSC Ensembl
chr14:73585382..73585732hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696073
Samples
Known GenesRBM25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503345
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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