A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534344



Internal ID310153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218307311..218307331hg38UCSC Ensembl
chr2:219172034..219172054hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928207
Samples
Known GenesPNKD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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