A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411118



Internal ID190431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64796598..64796649hg38UCSC Ensembl
chr5:64092425..64092476hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965834
Samples
Known GenesCWC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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