A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934593



Internal ID22709922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80147009..80147066hg38UCSC Ensembl
chr17:78120808..78120865hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374255
Samples
Known GenesEIF4A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934593
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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