A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895114



Internal ID170925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196756000..196840587hg38UCSC Ensembl
chr1:196725130..196809717hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884588
hg1984588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139398
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


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