A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712756



Internal ID136422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34397055..34397106hg38UCSC Ensembl
chr17:32724074..32724125hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559426
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712756
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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