A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889981



Internal ID167438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120987835..120996835hg38UCSC Ensembl
chr1:149651203..149660201hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg389001
hg198999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138966
Supporting Variants
Samples
Known GenesLINC00869
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


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