A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894948



Internal ID170805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204590681..204627884hg38UCSC Ensembl
chr1:204559809..204597012hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3837204
hg1937204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450662
Supporting Variants
Samples
Known GenesLRRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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