A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6403422



Internal ID21060975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134482582..134539346hg38UCSC Ensembl
chr5:133818273..133875036hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3856765
hg1956764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214480
Samples
Known GenesJADE2, LOC101927934
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6403422
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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