A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209287



Internal ID20776327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46741601..46769400hg38UCSC Ensembl
chr3:46783091..46810890hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3827800
hg1927800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6375013
Supporting Variants
Samples
Known GenesPRSS45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209287
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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