A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718257



Internal ID141923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:53254662..53254662hg38UCSC Ensembl
chr18:50781032..50781032hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551904
Supporting Variants
Samples
Known GenesDCC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718257
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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