A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753949



Internal ID20529809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134422647..134422647hg38UCSC Ensembl
chr5:133758338..133758338hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293047
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753949
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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