A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5660040



Internal ID21608345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5516070..5516070hg38UCSC Ensembl
chr17:5419390..5419390hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094182
SamplesHG03065
Known GenesNLRP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5660040
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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