A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184625



Internal ID20751665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7816401..8052500hg38UCSC Ensembl
chr12:7968997..8205096hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38236100
hg19236100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475453
Supporting Variants
Samples
Known GenesFOXJ2, SLC2A14, SLC2A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184625
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01845


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