A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710997



Internal ID134663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4714213..4714292hg38UCSC Ensembl
chr17:4617508..4617587hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528743
Supporting Variants
Samples
Known GenesARRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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