A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209028



Internal ID20776068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241807401..242110700hg38UCSC Ensembl
chr2:242745052..243052851hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38303300
hg19307800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339407
Supporting Variants
Samples
Known GenesCXXC11, LOC728323, NEU4, PDCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209028
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00034


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