A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760989



Internal ID20536849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125067026..125067026hg38UCSC Ensembl
chr12:125551572..125551572hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263357
Samples
Known GenesAACS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760989
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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