A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17626684



Internal ID21818731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50534079..50534156hg38UCSC Ensembl
chr17:48611440..48611517hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6021906
Supporting Variants
Samples
Known GenesEPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17626684
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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