A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717767



Internal ID141433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43734216..43734216hg38UCSC Ensembl
chr18:41314181..41314181hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg384974
hg194974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536488
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.569422


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