A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711523



Internal ID135189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12992876..12992946hg38UCSC Ensembl
chr17:12896193..12896263hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531425
Supporting Variants
Samples
Known GenesELAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711523
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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