A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905981



Internal ID4786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54053737..54053802hg38UCSC Ensembl
chr1:54519410..54519475hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423257
Supporting Variants
Samples
Known GenesTCEANC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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