A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713510



Internal ID137176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47735281..47786860hg38UCSC Ensembl
chr17:45812647..45864226hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3851580
hg1951580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527347
Supporting Variants
Samples
Known GenesTBX21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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