A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195937



Internal ID20762977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7854501..8029000hg38UCSC Ensembl
chr12:8007097..8181596hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38174500
hg19174500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455707
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195937
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0039


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