A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902011



Internal ID22677164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:106299142..106345993hg38UCSC Ensembl
chr4:107220299..107267150hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3846852
hg1946852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429188
Samples
Known GenesAIMP1, TBCK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902011
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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