A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715967



Internal ID139633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4104145..4104145hg38UCSC Ensembl
chr18:4104145..4104145hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430836
Supporting Variants
Samples
Known GenesDLGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003749


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