A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210243



Internal ID20777283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123380301..123462500hg38UCSC Ensembl
chr4:124301456..124383655hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3882200
hg1982200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6381400
Supporting Variants
Samples
Known GenesSPRY1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


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