A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204869



Internal ID20771909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134502987..134504437hg38UCSC Ensembl
chr2:135260558..135262008hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381451
hg191451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338192
Supporting Variants
Samples
Known GenesTMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204869
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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