A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700095



Internal ID123761
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 StatusS
Merged Variantsnsv5496369
Supporting Variants
Samples
Known GenesEIF2AK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700095
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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