A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014700



Internal ID77466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100621129..100622529hg38UCSC Ensembl
chr8:101633357..101634757hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484884
Supporting Variants
Samples
Known GenesSNX31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014700
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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