A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290496



Internal ID20499714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20853931..20853931hg38UCSC Ensembl
chr12:21006865..21006865hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4766068
Supporting Variants
Samples
Known GenesSLCO1B3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290496
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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