A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890945



Internal ID168138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157030184..157030259hg38UCSC Ensembl
chr1:156999976..157000051hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424209
Supporting Variants
Samples
Known GenesARHGEF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890945
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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