A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205442



Internal ID20772482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192176001..192218500hg38UCSC Ensembl
chr2:193040727..193083226hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3842500
hg1942500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344629
Supporting Variants
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205442
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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