A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433998



Internal ID22491868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80034776..80036501hg38UCSC Ensembl
chr8:80947011..80948736hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381726
hg191726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916387
Supporting Variants
Samples
Known GenesTPD52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433998
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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