A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712483



Internal ID136149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30470269..30470306hg38UCSC Ensembl
chr17:28797287..28797324hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541014
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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