A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714983



Internal ID138649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80228421..80231410hg38UCSC Ensembl
chr17:78202220..78205209hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382990
hg192990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515390
Supporting Variants
Samples
Known GenesSLC26A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714983
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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