A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496369



Internal ID273445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40017519..40017692hg38UCSC Ensembl
chr15:40309720..40309893hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700095
Samples
Known GenesEIF2AK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496369
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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