A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754257



Internal ID20530117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55621508..55621508hg38UCSC Ensembl
chr18:53288739..53288739hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282870
Samples
Known GenesTCF4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754257
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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