A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6388523



Internal ID21046076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123398801..123403200hg38UCSC Ensembl
chr4:124319956..124324355hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210245
Samples
Known GenesSPRY1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6388523
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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