A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716398



Internal ID140064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13909153..13909204hg38UCSC Ensembl
chr18:13909152..13909203hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433086
Supporting Variants
Samples
Known GenesMC2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716398
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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