A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704597



Internal ID128263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11726947..11731296hg38UCSC Ensembl
chr16:11820803..11825152hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg384350
hg194350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519613
Supporting Variants
Samples
Known GenesTXNDC11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704597
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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