A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528802



Internal ID304843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5511973..5512056hg38UCSC Ensembl
chr17:5415293..5415376hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711061
Samples
Known GenesNLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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