A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210236



Internal ID20777276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122780892..122950556hg38UCSC Ensembl
chr4:123702047..123871711hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38169665
hg19169665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6390552
Supporting Variants
Samples
Known GenesFGF2, NUDT6, SPATA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210236
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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