A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211910



Internal ID20778950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52992240..53002862hg38UCSC Ensembl
chr4:53858407..53869029hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3810623
hg1910623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6391532
Supporting Variants
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211910
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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