A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895435



Internal ID171128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197437008..197437059hg38UCSC Ensembl
chr1:197406138..197406189hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394851
Supporting Variants
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895435
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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