A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366964



Internal ID22592633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196797760..196922560hg38UCSC Ensembl
chr1:196766890..196891690hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124801
hg19124801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881259
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366964
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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