A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17135265



Internal ID21450506
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 StatusS
Merged Variantsnsv5636120
Supporting Variants
SamplesHG01505
Known GenesSEMA6A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17135265
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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