A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208275



Internal ID20775315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200302401..200306600hg38UCSC Ensembl
chr2:201167124..201171323hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348009
Supporting Variants
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208275
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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