A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712296



Internal ID135962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27416037..27423900hg38UCSC Ensembl
chr17:25743063..25750926hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387864
hg197864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519796
Supporting Variants
Samples
Known GenesTBC1D3P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004847


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