A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753595



Internal ID20529455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52002572..52002572hg38UCSC Ensembl
chr13:52576708..52576708hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273298
Samples
Known GenesATP7B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753595
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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