A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460724



Internal ID238696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52376212..52424955hg38UCSC Ensembl
chr6:52241010..52289753hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3848744
hg1948744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981863
Samples
Known GenesEFHC1, PAQR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460724
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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