A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16281422



Internal ID20490640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113286422..113286422hg38UCSC Ensembl
chr12:113724227..113724227hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4766937
Supporting Variants
Samples
Known GenesTPCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16281422
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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