A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762773



Internal ID20538633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64183082..64183082hg38UCSC Ensembl
chr14:64649800..64649800hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274292
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762773
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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