A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194356



Internal ID20761396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104949301..104953100hg38UCSC Ensembl
chr14:105415638..105419437hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505091
Supporting Variants
Samples
Known GenesAHNAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194356
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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