A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394231



Internal ID173665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47463035..47463086hg38UCSC Ensembl
chr4:47465052..47465103hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949963
Samples
Known GenesCOMMD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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