A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460186



Internal ID238179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160061309..160082069hg38UCSC Ensembl
chr5:159488316..159509076hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3820761
hg1920761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975984
Samples
Known GenesPWWP2A, TTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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