A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756339



Internal ID20532199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842540..48842540hg38UCSC Ensembl
chr12:49236323..49236323hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292544
Samples
Known GenesDDX23
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756339
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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