A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751109



Internal ID20526969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52081956..52081956hg38UCSC Ensembl
chr4:52948122..52948122hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273188
Samples
Known GenesSPATA18
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751109
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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