A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895436



Internal ID171129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197447413..197447769hg38UCSC Ensembl
chr1:197416543..197416899hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449000
Supporting Variants
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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