A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425064



Internal ID204037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31078644..31078695hg38UCSC Ensembl
chr18:28658610..28658661hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717053
Samples
Known GenesDSC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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