A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527921



Internal ID304001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3997588..4122601hg38UCSC Ensembl
chr17:3900882..4025895hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38125014
hg19125014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710465
Samples
Known GenesZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527921
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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