A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893212



Internal ID169628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186654803..186654939hg38UCSC Ensembl
chr1:186623935..186624071hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445362
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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