A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893008



Internal ID169498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180949729..180949853hg38UCSC Ensembl
chr1:180918865..180918989hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420909
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893008
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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