A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011424



Internal ID75270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50239928..50286585hg38UCSC Ensembl
chr8:51152488..51199145hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3846658
hg1946658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484928
Supporting Variants
Samples
Known GenesSNTG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011424
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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