A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895112



Internal ID170923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196755587..196846587hg38UCSC Ensembl
chr1:196724717..196815717hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3891001
hg1991001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445003
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895112
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.273354


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