A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902593



Internal ID2546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44699059..44700394hg38UCSC Ensembl
chr1:45164731..45166066hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381336
hg191336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426457
Supporting Variants
Samples
Known GenesC1orf228
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902593
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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