A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518102



Internal ID294498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21100091..21114378hg38UCSC Ensembl
chr17:21003404..21017691hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3814288
hg1914288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712141
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518102
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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