A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056615



Internal ID20623655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196799066..196923990hg38UCSC Ensembl
chr1:196768196..196893120hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124925
hg19124925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318403
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056615
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0049


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