A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891068



Internal ID168221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160314346..160318795hg38UCSC Ensembl
chr1:160284136..160288585hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg384450
hg194450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416418
Supporting Variants
Samples
Known GenesCOPA, SUMO1P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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