A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448944



Internal ID22506814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144273762..144273832hg38UCSC Ensembl
chr8:145497750..145497820hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921248
Supporting Variants
Samples
Known GenesBOP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448944
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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