A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750127



Internal ID20526162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104603521..104603739hg38UCSC Ensembl
chr14:105069858..105070076hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296257
Samples
Known GenesTMEM179
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750127
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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