A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466659



Internal ID244491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134406640..134407554hg38UCSC Ensembl
chr5:133742331..133743245hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974003
Samples
Known GenesCDKN2AIPNL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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