A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17440350



Internal ID22498220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42979546..42979604hg38UCSC Ensembl
chr8:42834689..42834747hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920269
Supporting Variants
Samples
Known GenesHOOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17440350
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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