A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194271



Internal ID20761311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61692101..61697900hg38UCSC Ensembl
chr14:62158819..62164618hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477886
Supporting Variants
Samples
Known GenesHIF1A, HIF1A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194271
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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