A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540484



Internal ID315242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79739887..79739887hg38UCSC Ensembl
chr17:77713686..77713686hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714945
Samples
Known GenesENPP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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