A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544967



Internal ID319054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17252470..17252494hg38UCSC Ensembl
chr17:17155784..17155808hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711841
Samples
Known GenesCOPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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