A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702612



Internal ID126278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83944871..83944922hg38UCSC Ensembl
chr15:84613623..84613674hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg381306
hg191306
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563649
Supporting Variants
Samples
Known GenesADAMTSL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702612
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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