A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16278709



Internal ID20487927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6985552..6985552hg38UCSC Ensembl
chr12:7094712..7094712hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750784
Supporting Variants
Samples
Known GenesLPCAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16278709
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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