A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760281



Internal ID20536141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69118303..69118303hg38UCSC Ensembl
chr5:68414130..68414130hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292936
Samples
Known GenesSLC30A5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760281
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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