A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263357



Internal ID20472575
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 StatusS
Merged Variantsnsv4760989
Supporting Variants
Samples
Known GenesAACS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263357
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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