A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895625



Internal ID171246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207871134..207875303hg38UCSC Ensembl
chr1:208044479..208048648hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384170
hg194170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451797
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895625
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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