A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530909



Internal ID306877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55270841..55271774hg38UCSC Ensembl
chr17:53348202..53349135hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724760
Samples
Known GenesHLF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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