A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211926



Internal ID20778966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54274724..54314912hg38UCSC Ensembl
chr4:55140891..55181079hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3840189
hg1940189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387618
Supporting Variants
Samples
Known GenesPDGFRA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211926
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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