A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717835



Internal ID141501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45195884..45195921hg38UCSC Ensembl
chr18:42775849..42775886hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551630
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717835
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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