A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201462



Internal ID20768502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53186220..53200062hg38UCSC Ensembl
chr1:53651892..53665734hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3813843
hg1913843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333997
Supporting Variants
Samples
Known GenesCPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201462
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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