A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556519



Internal ID329656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218316581..218316632hg38UCSC Ensembl
chr2:219181304..219181355hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928208
Samples
Known GenesPNKD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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