A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541563



Internal ID316148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3599442..3599442hg38UCSC Ensembl
chr17:3502736..3502736hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710422
Samples
Known GenesTRPV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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