A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394009



Internal ID173445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46782917..46782968hg38UCSC Ensembl
chr4:46784934..46784985hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950877
Samples
Known GenesCOX7B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394009
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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