A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716903



Internal ID140569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28692744..28698448hg38UCSC Ensembl
chr18:26272708..26278412hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385705
hg195705
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147091
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716903
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.212145


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