A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427868



Internal ID22485738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19476869..19476986hg38UCSC Ensembl
chr3:19518361..19518478hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894855
Supporting Variants
Samples
Known GenesKCNH8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427868
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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