A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353617



Internal ID22579286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225998341..225998422hg38UCSC Ensembl
chr1:226186042..226186123hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869014
Supporting Variants
Samples
Known GenesSDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353617
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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