A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5636120



Internal ID21584425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116468819..116468819hg38UCSC Ensembl
chr5:115804515..115804515hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135265
SamplesHG01505
Known GenesSEMA6A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5636120
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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