A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530556



Internal ID306535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12545972..12551142hg38UCSC Ensembl
chr17:12449289..12454459hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg385171
hg195171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711499
Samples
Known GenesLINC00670
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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