A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212223



Internal ID20779263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187176486..187467231hg38UCSC Ensembl
chr3:186894274..187185019hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38290746
hg19290746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6368310
Supporting Variants
Samples
Known GenesMASP1, RTP1, RTP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212223
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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