A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515056



Internal ID291543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5506689..5507963hg38UCSC Ensembl
chr17:5410009..5411283hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381275
hg191275
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711060
Samples
Known GenesNLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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