A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890670



Internal ID22665698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175681730..175681792hg38UCSC Ensembl
chr5:175108733..175108795hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428771
Samples
Known GenesHRH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890670
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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