A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717272



Internal ID140938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34743028..34743079hg38UCSC Ensembl
chr18:32322992..32323043hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422357
Supporting Variants
Samples
Known GenesDTNA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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