A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439457



Internal ID217993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106209999..107914000hg38UCSC Ensembl
chr2:106826455..108530456hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381704002
hg191704002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917872
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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