A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201492



Internal ID20768532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54976684..54985353hg38UCSC Ensembl
chr1:55442357..55451026hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg388670
hg198670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326723
Supporting Variants
Samples
Known GenesTMEM61
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201492
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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