A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16289323



Internal ID20498541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044594..105044594hg38UCSC Ensembl
chr12:105438372..105438372hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4753546
Supporting Variants
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16289323
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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